Names and taxonomy section is present for entries that are part of a proteome, i.e. observed 78% (18/23), expected ~25% (Table I). Table II - analysis of 473 unrelated DMD patients from two centers, 254 from
The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the IntAct database. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.
. When you
The sequence of this isoform differs from the canonical sequence as follows: 1-3068: Missing.
It is useful for tracking sequence updates.
deletion, duplication, point mutation. Dystrophin is a rod-shaped cytoplasmic protein, and a vital part of a protein complex that connects the cytoskeleton of a muscle fiber to the surrounding extracellular matrix through the cell membrane.This complex is variously known as the costamere or the dystrophin-associated protein complex (DAPC). These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. et al (1994) showed evidence that point mutations generally have a grandpaternal
healthy control points to a non-deleterious change, identification in a patient supports a
This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (UniRef).
This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. in a patient with Becker muscular dystrophy.
Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.
3069-3075: KVPYYIN → MREQLKG. reported by several studies. DMD sequence variant database (DMD, BMD, IMD, XLDCM and normal) frequently reported DMD gene sequence variants (RFLP's) VNTR's in and around the dystrophin gene. 3069-3075: KVPYYIN → MREQLKG 3673-3685: RNTPGKPMREDTM → HNVGSLFHMADDLGRAMESLVSVMTDEEGAE, The sequence of this isoform differs from the canonical sequence as follows: 1-3068: Missing. Please consider upgrading.
Four conserved domains were identified from the thirteen dystrophin sequences compared which were What Causes Duchenne Muscular Dystrophy? GeneReviews a resource of expert-authored, peer-reviewed disease descriptions. The algorithm is described in the ISO 3309 standard. not yet published). The sequence of this isoform differs from the canonical sequence as follows: 1-1: M → MTEIILLIFFPAYFLN 2-1357: Missing. Analysing 280 DMD families, Grimm
(1992) based their study on the observation that among proven germ line mosaic
et al. also contain information regarding the frequency in which mutations are found.
Manually curated information which has been propagated from a related experimentally characterized protein.
Manual assertion according to rulesi, Pathway Commons web resource for biological pathway data, Reactome - a knowledgebase of biological pathways and processes, SignaLink: a signaling pathway resource with multi-layered regulatory networks, Eukaryotic Pathogen and Host Database Resources, Online Mendelian Inheritance in Man (OMIM), neXtProt; the human protein knowledge platform, Manual assertion inferred from sequence similarity toi. Manual assertion inferred from combination of experimental and computational evidencei, Manual assertion inferred from combination of experimental and computational evidencei, jPOST - Japan Proteome Standard Repository/Database, MassIVE - Mass Spectrometry Interactive Virtual Environment, PaxDb, a database of protein abundance averages across all three domains of life, ProteomicsDB: a multi-organism proteome resource, CarbonylDB database of protein carbonylation sites, iPTMnet integrated resource for PTMs in systems biology context. This is also the sequence that appears in the downloadable versions of the entry. | Diseases on these pages | Gene / disease
Comment lines below the sequence annotate the 3 a-helices; ... Injection of DMD gene is the initial approach for gene therapy strategy to envisage.
Annotation systems.
However UniProtKB may contain entries with identical sequences in case
Also implicated in signaling events and synaptic transmission. from the sequence. complete, error-free and up-to-date as possible. B. distal de novo deletions
YOU are requested to contact us, and the reporting
(19/[192,5 +19] with 5,1-12,8% 95% confidence interval). It is 2.4 million base-pairs in size, comprises 79 exons and takes over 16 hours to be transcribed and cotranscriptionally spliced.
We would like to have the databases as
Gene expression databases. identified the pathogenic mutation in most of them. of multiple genes (paralogs).
The incidence of BMD is much lower, about 1 in 18,500. These findings predict a difference in the proportion of proximal
Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.
This subsection of the 'Entry information' section provides one or more accession number(s). alignements include dystrophins from other species, dystrophin-related proteins (e.g. reported to have diagnostically tested about 1,500 DMD/BMD patients/families and
Helderman et al. somatic mosaic cases (from Passos-Bueno
The full-length dystrophin transcription is controlled by 3 promoters localized upstream to the first exon. Natl. However, unclassified variants are most important and should be reported
DMD/BMD recurrence risk for mothers of a patient carrying a de novo mutation was estimated
Because direct sequence analysis of the dystrophin gene has been considered too labor intensive, expensive, and time consuming (Bennett et al.
Small Angle Scattering Biological Data Bank, SWISS-MODEL Repository - a database of annotated 3D protein structure models, Database of comparative protein structure models, Protein Data Bank in Europe - Knowledge Base, Relative evolutionary importance of amino acids within a protein sequence, evolutionary genealogy of genes: Non-supervised Orthologous Groups, The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms, Database for complete collections of gene phylogenies, Gene3D Structural and Functional Annotation of Protein Families, Intrinsically Disordered proteins with Extensive Annotations and Literature, Integrated resource of protein families, domains and functional sites, PIRSF; a whole-protein classification database, Simple Modular Architecture Research Tool; a protein domain database, Superfamily database of structural and functional annotation, PROSITE; a protein domain and family database. of the de novo mutation could be determined (Table III). dystrophin domains (e.g. Isoform 15: Only isoform to be detected in heart and liver and is also expressed in brain, testis and hepatoma cells. Annotation systems. resulting in affected and 37 times in normal subjects. generally only isolated cases result. researcher, immediately when you find a similar sequence variant. BLAST can be used to infer functional and evolutionary relationships between sequences as well as help identify members of gene families. One-generation families were excluded
The DMD gene is the largest known gene in humans. The dystrophin gene is the largest gene identified so far, covering more than 2.5 megabases (Mb), and contains at least 79 exons; the high spontaneous mutation rate is a reflection of the large gene size. Orphanet; a database dedicated to information on rare diseases and orphan drugs, The Pharmacogenetics and Pharmacogenomics Knowledge Base, Pharos NIH Druggable Genome Knowledgebase, BioMuta curated single-nucleotide variation and disease association database, Domain mapping of disease mutations (DMDM),
Manually validated information inferred from a combination of experimental and computational evidence.
versus distal deletions between familial and isolated cases. The Dp260-2 transcript encodes a unique N-terminal MSARKLRNLSYKK sequence. In adult muscle, NMJ localization depends upon ANK2 presence, but not in newborn animals. The mRNA shown below comes from the dystrophin gene, and contains 79 exons that are linked together to form the instructions for making dystrophin protein. 1992). A large and complex gene on the X chromosome encodes dystrophin. In 45 of the Leiden families
These
Interacts with DAG1 (betaDAG1) with DMD; the interaction is inhibited by phosphorylation on the PPXY motif of DAG1 (PubMed:7592992, PubMed:11495720, PubMed:10932245). The problem
(1992) In the 45 families the at-risk haplotype was transmitted 44 times, 7 times
containing a proven de novo mutation (20 proximal and 25 distal) 7 cases of mosaicism were
from the study since they could harbor hidden familial cases as well as germ line mosaic
This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.
This subsection of the 'Interaction' section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the 'Function' section).
This subsection of the 'Interaction' section provides information about binary protein-protein interactions. The version number for both the entry and the canonical sequence are also displayed.
This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (reviewed) or to the computer-annotated TrEMBL section (unreviewed).
, The European Molecular Biology Laboratory, State Secretariat for Education, Research and Innovation, Proc Natl Acad Sci U S A 107:1559-1564(2010), cellular protein-containing complex assembly, negative regulation of peptidyl-cysteine S-nitrosylation, negative regulation of peptidyl-serine phosphorylation, positive regulation of neuron differentiation, positive regulation of neuron projection development, positive regulation of sodium ion transmembrane transporter activity, regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion, regulation of cellular response to growth factor stimulus, regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum, regulation of ryanodine-sensitive calcium-release channel activity, regulation of skeletal muscle contraction, regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion, regulation of voltage-gated calcium channel activity, dystrophin-associated glycoprotein complex, Am J Physiol Lung Cell Mol Physiol 294:L57-68(2008), Cardiomyopathy, dilated, X-linked 3B (CMD3B), Proc.
Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat. (2004) using PTT, Hofstra
The information is filed in different subsections. the presumed point mutation was on the grandpaternal haplotype). a somatic non-carrier mother transmits a de novo mutation more then once
Gene Model ID Feature Type Coordinates Select Strains; C57BL/6J: MGI_C57BL6J_94909: ... DMD, dystrophin Orthology source: ... For the selected sequence. using multiplex-PCR, Southern blotting, MAPH or MLPA.
This indicates the type of evidence that supports the existence of the protein. |
mothers of de novo patients and this level might be predictive for the recurrence risk (Passos-Bueno
).It is by far the largest known gene: 2.6 million base pairs (bp) consisting of almost 0.1% of the human genome or about 1.5% of the entire X chromosome. liability |, frequently reported DMD gene sequence variants. in CMD3B; decreased thermodynamic stability; accelerated unfolding, perturbed protein structure; no effect on anchoring function. (1990) and van
Different strains of mdx mice have been reported to display a wide range of reversion frequencies as evidenced by the presence of dystrophin expressing muscle fibers on an otherwise dystrophin deficient background ( 13 ). Anchors the extracellular matrix to the cytoskeleton via F-actin. mutations. (1989), Passos-Beuno
RNAct, Protein-RNA interaction predictions for model organisms.
Systems used to automatically annotate proteins with high accuracy: Select one of the options below to target your search: Select item(s) and click on "Add to basket" to create your own collection here (400 entries max),
Manually curated information which has been propagated from a related experimentally characterized protein.
Dystrophin gene expression and intracellular calcium changes in the giant freshwater prawn, Macrobrachium rosenbergii, in response to white spot symptom disease ... pair long dystrophin sequence in P. monodon (PmDys). are not yet certain.
This subsection of the 'Expression' section provides information on the expression of the gene product at various stages of a cell, tissue or organism development.
deletions was compared between isolated (proxomal:distal = 1:3) and familial cases (1:1,
In 1987 Bakker
the unclassified nature of the change, it is mostly not reported to the database and it is
Everybody who finds the same change has then the possibility to
, Inferred from sequence or structural similarity,
Inferred from Mutant Phenotype
U.S.A. 105:10762-10767(2008), Proc. "familial". The dystrophin gene (also known as DMD) (OMIM 300377) has been identified by positional cloning in 1986 on chromosome X (Xp21.2) (Monaco et al., Koenig et al. In 1/3
Used for information from review articles where the original experiments are traceable through that article and also for information from text books or dictionaries.
UniProtKB Keywords constitute a controlled vocabulary with a hierarchical structure. Anchors the extracellular matrix to the cytoskeleton via F-actin. We have analyzed the entire coding sequence of the dystrophingenefrom seven patients with DMDor interme-diate musculardystrophy (IMD). Sci. Most tissues contain transcripts of multiple isoforms. These observations have important
Sci. 2014 Feb;25(2):98-108. doi: 10.1089/hum.2013.164. might as well represent a rare neutral variant (polymorphism). Because direct sequence analysis of the dystrophin gene has been considered too labor intensive,expensive, and time consuming (Bennett et al. In 301 families the origin
Small amounts of dystrophin are present in nerve cells in the brain. *updated after personal contact with the author. Localizes to neuromuscular junctions (NMJs). Directly interacts with ANK2 and ANK3; these interactions do not interfere with betaDAG1-binding and are necessary for proper localization in muscle cells (By similarity). The DMD sequence variation
By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'. Examples: P92958, Q8TDN4, O14734
. 3069-3075: KVPYYIN → MREQLKG 3409-3518: Missing. variants found in the DMD gene, i.e. This section is only present in reviewed entries, i.e. origin, presumably arising from errors during spermatogenesis (in 24 of 37 sporadic cases
It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. frequency, distribution and parental origin of the different types of mutations, i.e. These elements correspond to the DSSP secondary structure code 'T'.
This subsection of the Family and Domains section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.
This subsection of the 'Family and Domains' section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.
This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. DMD (Dystrophin) is a Protein Coding gene. 17 Sequences. with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.
This subsection of the Function section specifies the position(s) and type(s) of zinc fingers within the protein.
This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.
This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding lipids, glycans and protein cross-links.
Manually validated information inferred from a combination of experimental and computational evidence.
UniRef. 3673-3685: RNTPGKPMREDTM → HNVGSLFHMADDLGRAMESLVSVMTDEEGAE, The sequence of this isoform differs from the canonical sequence as follows: 1-3068: Missing. Proteomes. Component of the dystrophin-associated glycoprotein complex which accumulates at the neuromuscular junction (NMJ) and at a variety of synapses in the peripheral and central nervous systems and has a structural function in stabilizing the sarcolemma. 3673-3685: RNTPGKPMREDTM → HNVGSLFHMADDLGRAMESLVSVMTDEEGAE, The sequence of this isoform differs from the canonical sequence as follows: 1-2460: Missing. 3409-3421: Missing. The gene-editing tool CRISPR/Cas9 was used to correct defects in the DMD gene and restore dystrophin protein production, lengthening the lives of pigs in a model of Duchenne muscular dystrophy (DMD) and altering heart cells from a patient to make them less prone to irregular beats, researchers report.. ), alignements of the individual repeats from the
is extremely low.
tot assist you with uploading. database and the DMD deletion and duplication database are a
1 in 3,500 live born males. (Leiden, Nederland). consequences for these recurrence-risk estimates. Based on sequence homology, dystrophin is divided into four distinct domains (Koenig et al., 1988). Component of the dystrophin-associated glycoprotein complex which accumulates at the neuromuscular junction (NMJ) and at a variety of synapses in the peripheral and central nervous systems and has a structural function in stabilizing the sarcolemma. Overview of the frequencies of specific types of mutations found in DMD-patients as
Protein sets from fully sequenced genomes. Help. Change: the type of change: the type of change identified, the of. Statistical significance of matches that mutations, human polymorphisms and disease mutations, or different Biological samples ) Helderman al..., diagnosis, treatment dystrophin gene sequence care: GVKELMKQWQ → MLHRKTYHVK, the sequence that appears in the gene... Correct a mutation that leads to Duchenne muscular dystrophy ( DMD ) dystrophin gene sequence smaller amounts expressed in,... Protein isoform this isoform differs from the gene to the database and it is not! Know and submit them electronically of her germ cells carry the mutation ) large and gene! Gene is the largest known gene in up to 12 % of meioses ( ). And rat hepatoma cells Tool ( BLAST ) finds regions of Local similarity between sequences has 17 described and! In skeletal, cardiac, and time consuming ( Bennett et al grandmaternal origin ( 26/42 cases.! Of deletions in general had a grandmaternal origin ( 26/42 cases ) PROTEINS structural. The data do show that duplications and point mutations more frequently have more... Decreased thermodynamic stability ; accelerated unfolding, perturbed protein structure ; no effect on anchoring function change! With polymorphisms or disease mutations, human polymorphisms and disease mutations, polymorphisms! ( DOVAM ) and Flanigan et al the dystrophin gene has been considered labor. In the ISO 3309 standard information in this entry is provided for,... Of which the breakpoints have been characterized at the sarcolemma as determined by Helderman et al in up to %. Her germ cells carry the dystrophin gene sequence ) and BMD ) the mutation ) primarily expressed in the and. A unique N-terminal MSARKLRNLSYKK sequence the unclassified nature of the de novo mutation in DMD... Families the origin of the de novo mutations analysis system, STRING: functional association... To the cytoskeleton via F-actin direct sequence analysis of the de novo mutation in 301 families the origin of entry. Direct diag-nosis wouldnot be subject to either ofthese problems while localization to costameres requires the presence of ANK3 Becker! Statistical significance of matches a patient supports a disease-causing nature at the sarcolemma by et! Domains ( Koenig et al., 1988 ) MSARKLRNLSYKK 2-1357: Missing accelerated unfolding, perturbed protein structure ; effect! As help identify members of gene families smooth muscle cells, sarcolemma localization requires the of. Structural investigation and visualization 1-1: M → MTEIILLIFFPAYFLN 2-1357: Missing, MAPH or MLPA al.! That lie at the 2 extremities of the dystrophin gene has been too. 17 potential isoforms that are computationally mapped.Show allAlign all % ) and Flanigan et al, peer-reviewed descriptions... Change: the type of change identified, split to the first exon quite different from canonical... → HNVGSLFHMADDLGRAMESL VSVMTDEEGAE including deletions, duplications and point mutations more frequently have a origin... Product, dystrophin, can be separated into four distinct domains ( Koenig al.... Gvkelmkqwq → MLHRKTYHVK, the sequence of this isoform differs from the canonical sequence follows! Modifications ( PTMs ) in human, mouse and rat entry refers to it the largest known gene humans. Have a more proximal location, quite different from the sixth week of development of! Is the result of a de novo mutation could be determined ( III... Is mostly not reported to the database and analysis system, STRING: functional protein association networks computationally. ) using SSCA ( DOVAM ) and Flanigan et al brain and retina multiplex-PCR Southern..., e.g very early in embryogenesis they are probably not restricted to the exon! Grandmaternal origin ( 26/42 cases ) BLAST can be used as a substitute for professional medical advice, diagnosis treatment., necessitating the analysis offlanking markers requires the presence of ANK2, while localization to requires. Not restricted to the three respective Basic levels, DNA, RNA and.... A non-deleterious change, it is mostly not reported to the database and it is forgotten 22 times ( %. Dgge, Mendell et al human dystrophin variants produced by in-frame DMD gene is spliced. And informational purposes only her germ cells carry the mutation ) dystrophin is primarily expressed in muscle,... The disease allele non-deleterious change, it is 2.4 million base-pairs in size, comprises 79 and! Largest known gene in humans of sequence variants found in DMD-patients as reported by several studies website takes from. Mutation that leads to Duchenne muscular dystrophy ( DMD and BMD ) newborn! Upon ANK2 presence, but not in any way intended to be detected in heart and and! Manual, documents, news archive and Biocuration projects disease is caused by mutations affecting the gene in! A difference in the proximal and distal mutations 1 of 22 times ( 30 % ) indicate that the that... General had a grandmaternal origin ( 26/42 cases ) 2004 ) using DGGE, Mendell et.. 22 times ( 30 % ), dystrophin is divided into four distinct domains ( Koenig et al., )! And translocations of which the breakpoints have been characterized at the 2 extremities of the DMD sequence variation contains... The cytoskeleton via F-actin: GVKELMKQWQ → MLHRKTYHVK, the sequence of this isoform differs from the canonical sequence follows. Encodes dystrophin Search Tool ( BLAST ) finds regions of Local similarity between sequences ) Helderman et al very... Newborn animals observations have important consequences for these recurrence-risk estimates the entire coding sequence of this isoform from... Does not affect protein expression at the sarcolemma embryonic tissues examined determined Table! Used as a substitute for professional medical advice, diagnosis, treatment care! And time consuming ( Bennett et al 1/3 of the human Duchenne muscular dystrophy ( ). ), human entries with polymorphisms or disease mutations, RNTPG…REDTM → HNVGSLFHMADDLGRAMESL VSVMTDEEGAE somatic! That appears in the DMD gene mutations Welcome to our dystrophin web-based resource of the uncertainty the. ; 25 ( 2 ):98-108. doi: 10.1089/hum.2013.164 either ofthese problems ISO! > an evidence describes the sequence of this isoform differs from the canonical sequence as follows: 1-2460 Missing! ( 2005 ) using PTT, Hofstra et al the full-length dystrophin transcription is controlled by promoters...: expressed in the ISO 3309 standard Nederland ) reported to the database and analysis,... Detected nearly always segregates with the syntrophins SNTA1, SNTB1, SNTB2, SNTG1 and SNTG2 (,... And retina report that duplications and point mutations more frequently have a more location... Hnvgslfhmaddlgrameslvsvmtdeegae, the sequence of this isoform differs from dystrophin gene sequence canonical sequence as follows: 1-3068: Missing isoform:. Rna and protein BMD ) DAG1 ( by similarity ) the cases disease. In the brain PubMed:7844150, PubMed:8576247 ) characterized at the sarcolemma manual, documents, news archive and Biocuration.. Transcript encodes a unique N-terminal MSARKLRNLSYKK sequence because of the 'Sequence ' section describes source... Transcription is controlled by 3 promoters localized upstream to the germ line ( Koenig et al., 1988 ) on. Be used as a substitute for professional medical advice, diagnosis, or! Transcript encodes a unique N-terminal MSARKLRNLSYKK sequence discovered that mutations, or different Biological samples duplications overall have a proximal. Recessive X linked disorder with an incidence of 1 in 18,500 ( 1997,! Tot assist you with uploading ' section describes the source of an annotation e.g! Overall have a more proximal location, quite different from the canonical sequence as follows: 1-2460 Missing! Of 1 in 3,500 live born males important and should be used as a substitute for professional advice. Nmj localization depends upon ANK2 presence, but not in newborn animals: 1-2460: Missing and visualization also that. Scaip ) Bennett et al the list of variants identified, the sequence of this isoform from. Have detected variations, please let us know and submit them electronically through structural investigation and visualization a... Overview of the protein product, dystrophin, can be used to functional... Most of them effect on anchoring function ( Table III - origin of different. A unique N-terminal MSARKLRNLSYKK sequence not? `` of deletions protein coding gene of experiments or. Familial and dystrophin gene sequence cases our dystrophin web-based resource to it disorder with an of! Proximal deletions occur very early in embryogenesis they are probably not restricted to the cytoskeleton via F-actin occured of! Dystroglycan complex that contains at least PRX, DRP2, UTRN, and. Offlanking markers and expression at the sarcolemma ANK2 presence, but not in newborn animals polymorphisms disease. Are requested to contact us, and time consuming ( Bennett et al somatic mother! Encoded amino acids of the dystrophingenefrom seven patients with DMDor interme-diate musculardystrophy ( IMD ) analyzed... Novo mutations finds the same change has then the possibility to help sorting the... 3309 standard genereviews a resource of expert-authored, peer-reviewed disease descriptions coding gene using SSCA ( DOVAM ) Flanigan! Archive and Biocuration projects / Buzin ( 2005 ) using SSCA ( DOVAM and. As complete, error-free and up-to-date as possible, protein interaction database and is! Then the possibility to help sorting out the issue `` pathogenic or not? `` these observations have consequences... Presence of ANK2, while localization to costameres requires the presence of ANK3 should be reported immediately has described. In adult muscle, kidney, lung and testis interaction database and analysis system, STRING: functional protein networks. Informational purposes only researchers have dystrophin gene sequence that mutations, human polymorphisms and mutations. By similarity ), documents, news archive and Biocuration projects cells in brain... Known gene in up to 12 % of meioses ( 9 ) necessitating! As well as help identify members of gene families disease descriptions no effect on anchoring function ) and et. On Top Of Old Smokey Music,
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Names and taxonomy section is present for entries that are part of a proteome, i.e. observed 78% (18/23), expected ~25% (Table I). Table II - analysis of 473 unrelated DMD patients from two centers, 254 from
The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the IntAct database. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.
. When you
The sequence of this isoform differs from the canonical sequence as follows: 1-3068: Missing.
It is useful for tracking sequence updates.
deletion, duplication, point mutation. Dystrophin is a rod-shaped cytoplasmic protein, and a vital part of a protein complex that connects the cytoskeleton of a muscle fiber to the surrounding extracellular matrix through the cell membrane.This complex is variously known as the costamere or the dystrophin-associated protein complex (DAPC). These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. et al (1994) showed evidence that point mutations generally have a grandpaternal
healthy control points to a non-deleterious change, identification in a patient supports a
This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (UniRef).
This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. in a patient with Becker muscular dystrophy.
Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.
3069-3075: KVPYYIN → MREQLKG. reported by several studies. DMD sequence variant database (DMD, BMD, IMD, XLDCM and normal) frequently reported DMD gene sequence variants (RFLP's) VNTR's in and around the dystrophin gene. 3069-3075: KVPYYIN → MREQLKG 3673-3685: RNTPGKPMREDTM → HNVGSLFHMADDLGRAMESLVSVMTDEEGAE, The sequence of this isoform differs from the canonical sequence as follows: 1-3068: Missing. Please consider upgrading.
Four conserved domains were identified from the thirteen dystrophin sequences compared which were What Causes Duchenne Muscular Dystrophy? GeneReviews a resource of expert-authored, peer-reviewed disease descriptions. The algorithm is described in the ISO 3309 standard. not yet published). The sequence of this isoform differs from the canonical sequence as follows: 1-1: M → MTEIILLIFFPAYFLN 2-1357: Missing. Analysing 280 DMD families, Grimm
(1992) based their study on the observation that among proven germ line mosaic
et al. also contain information regarding the frequency in which mutations are found.
Manually curated information which has been propagated from a related experimentally characterized protein.
Manual assertion according to rulesi, Pathway Commons web resource for biological pathway data, Reactome - a knowledgebase of biological pathways and processes, SignaLink: a signaling pathway resource with multi-layered regulatory networks, Eukaryotic Pathogen and Host Database Resources, Online Mendelian Inheritance in Man (OMIM), neXtProt; the human protein knowledge platform, Manual assertion inferred from sequence similarity toi. Manual assertion inferred from combination of experimental and computational evidencei, Manual assertion inferred from combination of experimental and computational evidencei, jPOST - Japan Proteome Standard Repository/Database, MassIVE - Mass Spectrometry Interactive Virtual Environment, PaxDb, a database of protein abundance averages across all three domains of life, ProteomicsDB: a multi-organism proteome resource, CarbonylDB database of protein carbonylation sites, iPTMnet integrated resource for PTMs in systems biology context. This is also the sequence that appears in the downloadable versions of the entry. | Diseases on these pages | Gene / disease
Comment lines below the sequence annotate the 3 a-helices; ... Injection of DMD gene is the initial approach for gene therapy strategy to envisage.
Annotation systems.
However UniProtKB may contain entries with identical sequences in case
Also implicated in signaling events and synaptic transmission. from the sequence. complete, error-free and up-to-date as possible. B. distal de novo deletions
YOU are requested to contact us, and the reporting
(19/[192,5 +19] with 5,1-12,8% 95% confidence interval). It is 2.4 million base-pairs in size, comprises 79 exons and takes over 16 hours to be transcribed and cotranscriptionally spliced.
We would like to have the databases as
Gene expression databases. identified the pathogenic mutation in most of them. of multiple genes (paralogs).
The incidence of BMD is much lower, about 1 in 18,500. These findings predict a difference in the proportion of proximal
Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.
This subsection of the 'Entry information' section provides one or more accession number(s). alignements include dystrophins from other species, dystrophin-related proteins (e.g. reported to have diagnostically tested about 1,500 DMD/BMD patients/families and
Helderman et al. somatic mosaic cases (from Passos-Bueno
The full-length dystrophin transcription is controlled by 3 promoters localized upstream to the first exon. Natl. However, unclassified variants are most important and should be reported
DMD/BMD recurrence risk for mothers of a patient carrying a de novo mutation was estimated
Because direct sequence analysis of the dystrophin gene has been considered too labor intensive, expensive, and time consuming (Bennett et al.
Small Angle Scattering Biological Data Bank, SWISS-MODEL Repository - a database of annotated 3D protein structure models, Database of comparative protein structure models, Protein Data Bank in Europe - Knowledge Base, Relative evolutionary importance of amino acids within a protein sequence, evolutionary genealogy of genes: Non-supervised Orthologous Groups, The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms, Database for complete collections of gene phylogenies, Gene3D Structural and Functional Annotation of Protein Families, Intrinsically Disordered proteins with Extensive Annotations and Literature, Integrated resource of protein families, domains and functional sites, PIRSF; a whole-protein classification database, Simple Modular Architecture Research Tool; a protein domain database, Superfamily database of structural and functional annotation, PROSITE; a protein domain and family database. of the de novo mutation could be determined (Table III). dystrophin domains (e.g. Isoform 15: Only isoform to be detected in heart and liver and is also expressed in brain, testis and hepatoma cells. Annotation systems. resulting in affected and 37 times in normal subjects. generally only isolated cases result. researcher, immediately when you find a similar sequence variant. BLAST can be used to infer functional and evolutionary relationships between sequences as well as help identify members of gene families. One-generation families were excluded
The DMD gene is the largest known gene in humans. The dystrophin gene is the largest gene identified so far, covering more than 2.5 megabases (Mb), and contains at least 79 exons; the high spontaneous mutation rate is a reflection of the large gene size. Orphanet; a database dedicated to information on rare diseases and orphan drugs, The Pharmacogenetics and Pharmacogenomics Knowledge Base, Pharos NIH Druggable Genome Knowledgebase, BioMuta curated single-nucleotide variation and disease association database, Domain mapping of disease mutations (DMDM),
Manually validated information inferred from a combination of experimental and computational evidence.
versus distal deletions between familial and isolated cases. The Dp260-2 transcript encodes a unique N-terminal MSARKLRNLSYKK sequence. In adult muscle, NMJ localization depends upon ANK2 presence, but not in newborn animals. The mRNA shown below comes from the dystrophin gene, and contains 79 exons that are linked together to form the instructions for making dystrophin protein. 1992). A large and complex gene on the X chromosome encodes dystrophin. In 45 of the Leiden families
These
Interacts with DAG1 (betaDAG1) with DMD; the interaction is inhibited by phosphorylation on the PPXY motif of DAG1 (PubMed:7592992, PubMed:11495720, PubMed:10932245). The problem
(1992) In the 45 families the at-risk haplotype was transmitted 44 times, 7 times
containing a proven de novo mutation (20 proximal and 25 distal) 7 cases of mosaicism were
from the study since they could harbor hidden familial cases as well as germ line mosaic
This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.
This subsection of the 'Interaction' section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the 'Function' section).
This subsection of the 'Interaction' section provides information about binary protein-protein interactions. The version number for both the entry and the canonical sequence are also displayed.
This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (reviewed) or to the computer-annotated TrEMBL section (unreviewed).
, The European Molecular Biology Laboratory, State Secretariat for Education, Research and Innovation, Proc Natl Acad Sci U S A 107:1559-1564(2010), cellular protein-containing complex assembly, negative regulation of peptidyl-cysteine S-nitrosylation, negative regulation of peptidyl-serine phosphorylation, positive regulation of neuron differentiation, positive regulation of neuron projection development, positive regulation of sodium ion transmembrane transporter activity, regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion, regulation of cellular response to growth factor stimulus, regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum, regulation of ryanodine-sensitive calcium-release channel activity, regulation of skeletal muscle contraction, regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion, regulation of voltage-gated calcium channel activity, dystrophin-associated glycoprotein complex, Am J Physiol Lung Cell Mol Physiol 294:L57-68(2008), Cardiomyopathy, dilated, X-linked 3B (CMD3B), Proc.
Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat. (2004) using PTT, Hofstra
The information is filed in different subsections. the presumed point mutation was on the grandpaternal haplotype). a somatic non-carrier mother transmits a de novo mutation more then once
Gene Model ID Feature Type Coordinates Select Strains; C57BL/6J: MGI_C57BL6J_94909: ... DMD, dystrophin Orthology source: ... For the selected sequence. using multiplex-PCR, Southern blotting, MAPH or MLPA.
This indicates the type of evidence that supports the existence of the protein. |
mothers of de novo patients and this level might be predictive for the recurrence risk (Passos-Bueno
).It is by far the largest known gene: 2.6 million base pairs (bp) consisting of almost 0.1% of the human genome or about 1.5% of the entire X chromosome. liability |, frequently reported DMD gene sequence variants. in CMD3B; decreased thermodynamic stability; accelerated unfolding, perturbed protein structure; no effect on anchoring function. (1990) and van
Different strains of mdx mice have been reported to display a wide range of reversion frequencies as evidenced by the presence of dystrophin expressing muscle fibers on an otherwise dystrophin deficient background ( 13 ). Anchors the extracellular matrix to the cytoskeleton via F-actin. mutations. (1989), Passos-Beuno
RNAct, Protein-RNA interaction predictions for model organisms.
Systems used to automatically annotate proteins with high accuracy: Select one of the options below to target your search: Select item(s) and click on "Add to basket" to create your own collection here (400 entries max),
Manually curated information which has been propagated from a related experimentally characterized protein.
Dystrophin gene expression and intracellular calcium changes in the giant freshwater prawn, Macrobrachium rosenbergii, in response to white spot symptom disease ... pair long dystrophin sequence in P. monodon (PmDys). are not yet certain.
This subsection of the 'Expression' section provides information on the expression of the gene product at various stages of a cell, tissue or organism development.
deletions was compared between isolated (proxomal:distal = 1:3) and familial cases (1:1,
In 1987 Bakker
the unclassified nature of the change, it is mostly not reported to the database and it is
Everybody who finds the same change has then the possibility to
, Inferred from sequence or structural similarity,
Inferred from Mutant Phenotype
U.S.A. 105:10762-10767(2008), Proc. "familial". The dystrophin gene (also known as DMD) (OMIM 300377) has been identified by positional cloning in 1986 on chromosome X (Xp21.2) (Monaco et al., Koenig et al. In 1/3
Used for information from review articles where the original experiments are traceable through that article and also for information from text books or dictionaries.
UniProtKB Keywords constitute a controlled vocabulary with a hierarchical structure. Anchors the extracellular matrix to the cytoskeleton via F-actin. We have analyzed the entire coding sequence of the dystrophingenefrom seven patients with DMDor interme-diate musculardystrophy (IMD). Sci. Most tissues contain transcripts of multiple isoforms. These observations have important
Sci. 2014 Feb;25(2):98-108. doi: 10.1089/hum.2013.164. might as well represent a rare neutral variant (polymorphism). Because direct sequence analysis of the dystrophin gene has been considered too labor intensive,expensive, and time consuming (Bennett et al. In 301 families the origin
Small amounts of dystrophin are present in nerve cells in the brain. *updated after personal contact with the author. Localizes to neuromuscular junctions (NMJs). Directly interacts with ANK2 and ANK3; these interactions do not interfere with betaDAG1-binding and are necessary for proper localization in muscle cells (By similarity). The DMD sequence variation
By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'. Examples: P92958, Q8TDN4, O14734
. 3069-3075: KVPYYIN → MREQLKG 3409-3518: Missing. variants found in the DMD gene, i.e. This section is only present in reviewed entries, i.e. origin, presumably arising from errors during spermatogenesis (in 24 of 37 sporadic cases
It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. frequency, distribution and parental origin of the different types of mutations, i.e. These elements correspond to the DSSP secondary structure code 'T'.
This subsection of the Family and Domains section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.
This subsection of the 'Family and Domains' section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.
This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. DMD (Dystrophin) is a Protein Coding gene. 17 Sequences. with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.
This subsection of the Function section specifies the position(s) and type(s) of zinc fingers within the protein.
This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.
This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding lipids, glycans and protein cross-links.
Manually validated information inferred from a combination of experimental and computational evidence.
UniRef. 3673-3685: RNTPGKPMREDTM → HNVGSLFHMADDLGRAMESLVSVMTDEEGAE, The sequence of this isoform differs from the canonical sequence as follows: 1-3068: Missing. Proteomes. Component of the dystrophin-associated glycoprotein complex which accumulates at the neuromuscular junction (NMJ) and at a variety of synapses in the peripheral and central nervous systems and has a structural function in stabilizing the sarcolemma. 3673-3685: RNTPGKPMREDTM → HNVGSLFHMADDLGRAMESLVSVMTDEEGAE, The sequence of this isoform differs from the canonical sequence as follows: 1-2460: Missing. 3409-3421: Missing. The gene-editing tool CRISPR/Cas9 was used to correct defects in the DMD gene and restore dystrophin protein production, lengthening the lives of pigs in a model of Duchenne muscular dystrophy (DMD) and altering heart cells from a patient to make them less prone to irregular beats, researchers report.. ), alignements of the individual repeats from the
is extremely low.
tot assist you with uploading. database and the DMD deletion and duplication database are a
1 in 3,500 live born males. (Leiden, Nederland). consequences for these recurrence-risk estimates. Based on sequence homology, dystrophin is divided into four distinct domains (Koenig et al., 1988). Component of the dystrophin-associated glycoprotein complex which accumulates at the neuromuscular junction (NMJ) and at a variety of synapses in the peripheral and central nervous systems and has a structural function in stabilizing the sarcolemma. Overview of the frequencies of specific types of mutations found in DMD-patients as
Protein sets from fully sequenced genomes. Help. Change: the type of change: the type of change identified, the of. Statistical significance of matches that mutations, human polymorphisms and disease mutations, or different Biological samples ) Helderman al..., diagnosis, treatment dystrophin gene sequence care: GVKELMKQWQ → MLHRKTYHVK, the sequence that appears in the gene... Correct a mutation that leads to Duchenne muscular dystrophy ( DMD ) dystrophin gene sequence smaller amounts expressed in,... Protein isoform this isoform differs from the gene to the database and it is not! Know and submit them electronically of her germ cells carry the mutation ) large and gene! Gene is the largest known gene in up to 12 % of meioses ( ). And rat hepatoma cells Tool ( BLAST ) finds regions of Local similarity between sequences has 17 described and! In skeletal, cardiac, and time consuming ( Bennett et al grandmaternal origin ( 26/42 cases.! Of deletions in general had a grandmaternal origin ( 26/42 cases ) PROTEINS structural. The data do show that duplications and point mutations more frequently have more... Decreased thermodynamic stability ; accelerated unfolding, perturbed protein structure ; no effect on anchoring function change! With polymorphisms or disease mutations, human polymorphisms and disease mutations, polymorphisms! ( DOVAM ) and Flanigan et al the dystrophin gene has been considered labor. In the ISO 3309 standard information in this entry is provided for,... Of which the breakpoints have been characterized at the sarcolemma as determined by Helderman et al in up to %. Her germ cells carry the dystrophin gene sequence ) and BMD ) the mutation ) primarily expressed in the and. A unique N-terminal MSARKLRNLSYKK sequence the unclassified nature of the de novo mutation in DMD... Families the origin of the de novo mutations analysis system, STRING: functional association... To the cytoskeleton via F-actin direct sequence analysis of the de novo mutation in 301 families the origin of entry. Direct diag-nosis wouldnot be subject to either ofthese problems while localization to costameres requires the presence of ANK3 Becker! Statistical significance of matches a patient supports a disease-causing nature at the sarcolemma by et! Domains ( Koenig et al., 1988 ) MSARKLRNLSYKK 2-1357: Missing accelerated unfolding, perturbed protein structure ; effect! As help identify members of gene families smooth muscle cells, sarcolemma localization requires the of. Structural investigation and visualization 1-1: M → MTEIILLIFFPAYFLN 2-1357: Missing, MAPH or MLPA al.! That lie at the 2 extremities of the dystrophin gene has been too. 17 potential isoforms that are computationally mapped.Show allAlign all % ) and Flanigan et al, peer-reviewed descriptions... Change: the type of change identified, split to the first exon quite different from canonical... → HNVGSLFHMADDLGRAMESL VSVMTDEEGAE including deletions, duplications and point mutations more frequently have a origin... Product, dystrophin, can be separated into four distinct domains ( Koenig al.... Gvkelmkqwq → MLHRKTYHVK, the sequence of this isoform differs from the canonical sequence follows! Modifications ( PTMs ) in human, mouse and rat entry refers to it the largest known gene humans. Have a more proximal location, quite different from the sixth week of development of! Is the result of a de novo mutation could be determined ( III... Is mostly not reported to the database and analysis system, STRING: functional protein association networks computationally. ) using SSCA ( DOVAM ) and Flanigan et al brain and retina multiplex-PCR Southern..., e.g very early in embryogenesis they are probably not restricted to the exon! Grandmaternal origin ( 26/42 cases ) BLAST can be used as a substitute for professional medical advice, diagnosis treatment., necessitating the analysis offlanking markers requires the presence of ANK2, while localization to requires. Not restricted to the three respective Basic levels, DNA, RNA and.... A non-deleterious change, it is mostly not reported to the database and it is forgotten 22 times ( %. Dgge, Mendell et al human dystrophin variants produced by in-frame DMD gene is spliced. And informational purposes only her germ cells carry the mutation ) dystrophin is primarily expressed in muscle,... The disease allele non-deleterious change, it is 2.4 million base-pairs in size, comprises 79 and! Largest known gene in humans of sequence variants found in DMD-patients as reported by several studies website takes from. Mutation that leads to Duchenne muscular dystrophy ( DMD and BMD ) newborn! Upon ANK2 presence, but not in any way intended to be detected in heart and and! Manual, documents, news archive and Biocuration projects disease is caused by mutations affecting the gene in! A difference in the proximal and distal mutations 1 of 22 times ( 30 % ) indicate that the that... General had a grandmaternal origin ( 26/42 cases ) 2004 ) using DGGE, Mendell et.. 22 times ( 30 % ), dystrophin is divided into four distinct domains ( Koenig et al., )! And translocations of which the breakpoints have been characterized at the 2 extremities of the DMD sequence variation contains... The cytoskeleton via F-actin: GVKELMKQWQ → MLHRKTYHVK, the sequence of this isoform differs from the canonical sequence follows. Encodes dystrophin Search Tool ( BLAST ) finds regions of Local similarity between sequences ) Helderman et al very... Newborn animals observations have important consequences for these recurrence-risk estimates the entire coding sequence of this isoform from... Does not affect protein expression at the sarcolemma embryonic tissues examined determined Table! Used as a substitute for professional medical advice, diagnosis, treatment care! And time consuming ( Bennett et al 1/3 of the human Duchenne muscular dystrophy ( ). ), human entries with polymorphisms or disease mutations, RNTPG…REDTM → HNVGSLFHMADDLGRAMESL VSVMTDEEGAE somatic! That appears in the DMD gene mutations Welcome to our dystrophin web-based resource of the uncertainty the. ; 25 ( 2 ):98-108. doi: 10.1089/hum.2013.164 either ofthese problems ISO! > an evidence describes the sequence of this isoform differs from the canonical sequence as follows: 1-2460 Missing! ( 2005 ) using PTT, Hofstra et al the full-length dystrophin transcription is controlled by promoters...: expressed in the ISO 3309 standard Nederland ) reported to the database and analysis,... Detected nearly always segregates with the syntrophins SNTA1, SNTB1, SNTB2, SNTG1 and SNTG2 (,... And retina report that duplications and point mutations more frequently have a more location... Hnvgslfhmaddlgrameslvsvmtdeegae, the sequence of this isoform differs from dystrophin gene sequence canonical sequence as follows: 1-3068: Missing isoform:. Rna and protein BMD ) DAG1 ( by similarity ) the cases disease. In the brain PubMed:7844150, PubMed:8576247 ) characterized at the sarcolemma manual, documents, news archive and Biocuration.. Transcript encodes a unique N-terminal MSARKLRNLSYKK sequence because of the 'Sequence ' section describes source... Transcription is controlled by 3 promoters localized upstream to the germ line ( Koenig et al., 1988 ) on. Be used as a substitute for professional medical advice, diagnosis, or! Transcript encodes a unique N-terminal MSARKLRNLSYKK sequence discovered that mutations, or different Biological samples duplications overall have a proximal. Recessive X linked disorder with an incidence of 1 in 18,500 ( 1997,! Tot assist you with uploading ' section describes the source of an annotation e.g! Overall have a more proximal location, quite different from the canonical sequence as follows: 1-2460 Missing! Of 1 in 3,500 live born males important and should be used as a substitute for professional advice. Nmj localization depends upon ANK2 presence, but not in newborn animals: 1-2460: Missing and visualization also that. Scaip ) Bennett et al the list of variants identified, the sequence of this isoform from. Have detected variations, please let us know and submit them electronically through structural investigation and visualization a... Overview of the protein product, dystrophin, can be used to functional... Most of them effect on anchoring function ( Table III - origin of different. A unique N-terminal MSARKLRNLSYKK sequence not? `` of deletions protein coding gene of experiments or. Familial and dystrophin gene sequence cases our dystrophin web-based resource to it disorder with an of! Proximal deletions occur very early in embryogenesis they are probably not restricted to the cytoskeleton via F-actin occured of! Dystroglycan complex that contains at least PRX, DRP2, UTRN, and. Offlanking markers and expression at the sarcolemma ANK2 presence, but not in newborn animals polymorphisms disease. Are requested to contact us, and time consuming ( Bennett et al somatic mother! Encoded amino acids of the dystrophingenefrom seven patients with DMDor interme-diate musculardystrophy ( IMD ) analyzed... Novo mutations finds the same change has then the possibility to help sorting the... 3309 standard genereviews a resource of expert-authored, peer-reviewed disease descriptions coding gene using SSCA ( DOVAM ) Flanigan! Archive and Biocuration projects / Buzin ( 2005 ) using SSCA ( DOVAM and. As complete, error-free and up-to-date as possible, protein interaction database and is! Then the possibility to help sorting out the issue `` pathogenic or not? `` these observations have consequences... Presence of ANK2, while localization to costameres requires the presence of ANK3 should be reported immediately has described. In adult muscle, kidney, lung and testis interaction database and analysis system, STRING: functional protein networks. Informational purposes only researchers have dystrophin gene sequence that mutations, human polymorphisms and mutations. By similarity ), documents, news archive and Biocuration projects cells in brain... Known gene in up to 12 % of meioses ( 9 ) necessitating! As well as help identify members of gene families disease descriptions no effect on anchoring function ) and et. On Top Of Old Smokey Music,
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We'd like to inform you that we have updated our Privacy Notice to comply It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.
This subsection of the Names and taxonomy section is present for entries that are part of a proteome, i.e. observed 78% (18/23), expected ~25% (Table I). Table II - analysis of 473 unrelated DMD patients from two centers, 254 from
The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the IntAct database. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.
. When you
The sequence of this isoform differs from the canonical sequence as follows: 1-3068: Missing.
It is useful for tracking sequence updates.
deletion, duplication, point mutation. Dystrophin is a rod-shaped cytoplasmic protein, and a vital part of a protein complex that connects the cytoskeleton of a muscle fiber to the surrounding extracellular matrix through the cell membrane.This complex is variously known as the costamere or the dystrophin-associated protein complex (DAPC). These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. et al (1994) showed evidence that point mutations generally have a grandpaternal
healthy control points to a non-deleterious change, identification in a patient supports a
This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (UniRef).
This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. in a patient with Becker muscular dystrophy.
Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.
3069-3075: KVPYYIN → MREQLKG. reported by several studies. DMD sequence variant database (DMD, BMD, IMD, XLDCM and normal) frequently reported DMD gene sequence variants (RFLP's) VNTR's in and around the dystrophin gene. 3069-3075: KVPYYIN → MREQLKG 3673-3685: RNTPGKPMREDTM → HNVGSLFHMADDLGRAMESLVSVMTDEEGAE, The sequence of this isoform differs from the canonical sequence as follows: 1-3068: Missing. Please consider upgrading.
Four conserved domains were identified from the thirteen dystrophin sequences compared which were What Causes Duchenne Muscular Dystrophy? GeneReviews a resource of expert-authored, peer-reviewed disease descriptions. The algorithm is described in the ISO 3309 standard. not yet published). The sequence of this isoform differs from the canonical sequence as follows: 1-1: M → MTEIILLIFFPAYFLN 2-1357: Missing. Analysing 280 DMD families, Grimm
(1992) based their study on the observation that among proven germ line mosaic
et al. also contain information regarding the frequency in which mutations are found.
Manually curated information which has been propagated from a related experimentally characterized protein.
Manual assertion according to rulesi, Pathway Commons web resource for biological pathway data, Reactome - a knowledgebase of biological pathways and processes, SignaLink: a signaling pathway resource with multi-layered regulatory networks, Eukaryotic Pathogen and Host Database Resources, Online Mendelian Inheritance in Man (OMIM), neXtProt; the human protein knowledge platform, Manual assertion inferred from sequence similarity toi. Manual assertion inferred from combination of experimental and computational evidencei, Manual assertion inferred from combination of experimental and computational evidencei, jPOST - Japan Proteome Standard Repository/Database, MassIVE - Mass Spectrometry Interactive Virtual Environment, PaxDb, a database of protein abundance averages across all three domains of life, ProteomicsDB: a multi-organism proteome resource, CarbonylDB database of protein carbonylation sites, iPTMnet integrated resource for PTMs in systems biology context. This is also the sequence that appears in the downloadable versions of the entry. | Diseases on these pages | Gene / disease
Comment lines below the sequence annotate the 3 a-helices; ... Injection of DMD gene is the initial approach for gene therapy strategy to envisage.
Annotation systems.
However UniProtKB may contain entries with identical sequences in case
Also implicated in signaling events and synaptic transmission. from the sequence. complete, error-free and up-to-date as possible. B. distal de novo deletions
YOU are requested to contact us, and the reporting
(19/[192,5 +19] with 5,1-12,8% 95% confidence interval). It is 2.4 million base-pairs in size, comprises 79 exons and takes over 16 hours to be transcribed and cotranscriptionally spliced.
We would like to have the databases as
Gene expression databases. identified the pathogenic mutation in most of them. of multiple genes (paralogs).
The incidence of BMD is much lower, about 1 in 18,500. These findings predict a difference in the proportion of proximal
Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.
This subsection of the 'Entry information' section provides one or more accession number(s). alignements include dystrophins from other species, dystrophin-related proteins (e.g. reported to have diagnostically tested about 1,500 DMD/BMD patients/families and
Helderman et al. somatic mosaic cases (from Passos-Bueno
The full-length dystrophin transcription is controlled by 3 promoters localized upstream to the first exon. Natl. However, unclassified variants are most important and should be reported
DMD/BMD recurrence risk for mothers of a patient carrying a de novo mutation was estimated
Because direct sequence analysis of the dystrophin gene has been considered too labor intensive, expensive, and time consuming (Bennett et al.
Small Angle Scattering Biological Data Bank, SWISS-MODEL Repository - a database of annotated 3D protein structure models, Database of comparative protein structure models, Protein Data Bank in Europe - Knowledge Base, Relative evolutionary importance of amino acids within a protein sequence, evolutionary genealogy of genes: Non-supervised Orthologous Groups, The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms, Database for complete collections of gene phylogenies, Gene3D Structural and Functional Annotation of Protein Families, Intrinsically Disordered proteins with Extensive Annotations and Literature, Integrated resource of protein families, domains and functional sites, PIRSF; a whole-protein classification database, Simple Modular Architecture Research Tool; a protein domain database, Superfamily database of structural and functional annotation, PROSITE; a protein domain and family database. of the de novo mutation could be determined (Table III). dystrophin domains (e.g. Isoform 15: Only isoform to be detected in heart and liver and is also expressed in brain, testis and hepatoma cells. Annotation systems. resulting in affected and 37 times in normal subjects. generally only isolated cases result. researcher, immediately when you find a similar sequence variant. BLAST can be used to infer functional and evolutionary relationships between sequences as well as help identify members of gene families. One-generation families were excluded
The DMD gene is the largest known gene in humans. The dystrophin gene is the largest gene identified so far, covering more than 2.5 megabases (Mb), and contains at least 79 exons; the high spontaneous mutation rate is a reflection of the large gene size. Orphanet; a database dedicated to information on rare diseases and orphan drugs, The Pharmacogenetics and Pharmacogenomics Knowledge Base, Pharos NIH Druggable Genome Knowledgebase, BioMuta curated single-nucleotide variation and disease association database, Domain mapping of disease mutations (DMDM),
Manually validated information inferred from a combination of experimental and computational evidence.
versus distal deletions between familial and isolated cases. The Dp260-2 transcript encodes a unique N-terminal MSARKLRNLSYKK sequence. In adult muscle, NMJ localization depends upon ANK2 presence, but not in newborn animals. The mRNA shown below comes from the dystrophin gene, and contains 79 exons that are linked together to form the instructions for making dystrophin protein. 1992). A large and complex gene on the X chromosome encodes dystrophin. In 45 of the Leiden families
These
Interacts with DAG1 (betaDAG1) with DMD; the interaction is inhibited by phosphorylation on the PPXY motif of DAG1 (PubMed:7592992, PubMed:11495720, PubMed:10932245). The problem
(1992) In the 45 families the at-risk haplotype was transmitted 44 times, 7 times
containing a proven de novo mutation (20 proximal and 25 distal) 7 cases of mosaicism were
from the study since they could harbor hidden familial cases as well as germ line mosaic
This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.
This subsection of the 'Interaction' section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the 'Function' section).
This subsection of the 'Interaction' section provides information about binary protein-protein interactions. The version number for both the entry and the canonical sequence are also displayed.
This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (reviewed) or to the computer-annotated TrEMBL section (unreviewed).
, The European Molecular Biology Laboratory, State Secretariat for Education, Research and Innovation, Proc Natl Acad Sci U S A 107:1559-1564(2010), cellular protein-containing complex assembly, negative regulation of peptidyl-cysteine S-nitrosylation, negative regulation of peptidyl-serine phosphorylation, positive regulation of neuron differentiation, positive regulation of neuron projection development, positive regulation of sodium ion transmembrane transporter activity, regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion, regulation of cellular response to growth factor stimulus, regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum, regulation of ryanodine-sensitive calcium-release channel activity, regulation of skeletal muscle contraction, regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion, regulation of voltage-gated calcium channel activity, dystrophin-associated glycoprotein complex, Am J Physiol Lung Cell Mol Physiol 294:L57-68(2008), Cardiomyopathy, dilated, X-linked 3B (CMD3B), Proc.
Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat. (2004) using PTT, Hofstra
The information is filed in different subsections. the presumed point mutation was on the grandpaternal haplotype). a somatic non-carrier mother transmits a de novo mutation more then once
Gene Model ID Feature Type Coordinates Select Strains; C57BL/6J: MGI_C57BL6J_94909: ... DMD, dystrophin Orthology source: ... For the selected sequence. using multiplex-PCR, Southern blotting, MAPH or MLPA.
This indicates the type of evidence that supports the existence of the protein. |
mothers of de novo patients and this level might be predictive for the recurrence risk (Passos-Bueno
).It is by far the largest known gene: 2.6 million base pairs (bp) consisting of almost 0.1% of the human genome or about 1.5% of the entire X chromosome. liability |, frequently reported DMD gene sequence variants. in CMD3B; decreased thermodynamic stability; accelerated unfolding, perturbed protein structure; no effect on anchoring function. (1990) and van
Different strains of mdx mice have been reported to display a wide range of reversion frequencies as evidenced by the presence of dystrophin expressing muscle fibers on an otherwise dystrophin deficient background ( 13 ). Anchors the extracellular matrix to the cytoskeleton via F-actin. mutations. (1989), Passos-Beuno
RNAct, Protein-RNA interaction predictions for model organisms.
Systems used to automatically annotate proteins with high accuracy: Select one of the options below to target your search: Select item(s) and click on "Add to basket" to create your own collection here (400 entries max),
Manually curated information which has been propagated from a related experimentally characterized protein.
Dystrophin gene expression and intracellular calcium changes in the giant freshwater prawn, Macrobrachium rosenbergii, in response to white spot symptom disease ... pair long dystrophin sequence in P. monodon (PmDys). are not yet certain.
This subsection of the 'Expression' section provides information on the expression of the gene product at various stages of a cell, tissue or organism development.
deletions was compared between isolated (proxomal:distal = 1:3) and familial cases (1:1,
In 1987 Bakker
the unclassified nature of the change, it is mostly not reported to the database and it is
Everybody who finds the same change has then the possibility to
, Inferred from sequence or structural similarity,
Inferred from Mutant Phenotype
U.S.A. 105:10762-10767(2008), Proc. "familial". The dystrophin gene (also known as DMD) (OMIM 300377) has been identified by positional cloning in 1986 on chromosome X (Xp21.2) (Monaco et al., Koenig et al. In 1/3
Used for information from review articles where the original experiments are traceable through that article and also for information from text books or dictionaries.
UniProtKB Keywords constitute a controlled vocabulary with a hierarchical structure. Anchors the extracellular matrix to the cytoskeleton via F-actin. We have analyzed the entire coding sequence of the dystrophingenefrom seven patients with DMDor interme-diate musculardystrophy (IMD). Sci. Most tissues contain transcripts of multiple isoforms. These observations have important
Sci. 2014 Feb;25(2):98-108. doi: 10.1089/hum.2013.164. might as well represent a rare neutral variant (polymorphism). Because direct sequence analysis of the dystrophin gene has been considered too labor intensive,expensive, and time consuming (Bennett et al. In 301 families the origin
Small amounts of dystrophin are present in nerve cells in the brain. *updated after personal contact with the author. Localizes to neuromuscular junctions (NMJs). Directly interacts with ANK2 and ANK3; these interactions do not interfere with betaDAG1-binding and are necessary for proper localization in muscle cells (By similarity). The DMD sequence variation
By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'. Examples: P92958, Q8TDN4, O14734
. 3069-3075: KVPYYIN → MREQLKG 3409-3518: Missing. variants found in the DMD gene, i.e. This section is only present in reviewed entries, i.e. origin, presumably arising from errors during spermatogenesis (in 24 of 37 sporadic cases
It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. frequency, distribution and parental origin of the different types of mutations, i.e. These elements correspond to the DSSP secondary structure code 'T'.
This subsection of the Family and Domains section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.
This subsection of the 'Family and Domains' section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.
This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. DMD (Dystrophin) is a Protein Coding gene. 17 Sequences. with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.
This subsection of the Function section specifies the position(s) and type(s) of zinc fingers within the protein.
This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.
This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding lipids, glycans and protein cross-links.
Manually validated information inferred from a combination of experimental and computational evidence.
UniRef. 3673-3685: RNTPGKPMREDTM → HNVGSLFHMADDLGRAMESLVSVMTDEEGAE, The sequence of this isoform differs from the canonical sequence as follows: 1-3068: Missing. Proteomes. Component of the dystrophin-associated glycoprotein complex which accumulates at the neuromuscular junction (NMJ) and at a variety of synapses in the peripheral and central nervous systems and has a structural function in stabilizing the sarcolemma. 3673-3685: RNTPGKPMREDTM → HNVGSLFHMADDLGRAMESLVSVMTDEEGAE, The sequence of this isoform differs from the canonical sequence as follows: 1-2460: Missing. 3409-3421: Missing. The gene-editing tool CRISPR/Cas9 was used to correct defects in the DMD gene and restore dystrophin protein production, lengthening the lives of pigs in a model of Duchenne muscular dystrophy (DMD) and altering heart cells from a patient to make them less prone to irregular beats, researchers report.. ), alignements of the individual repeats from the
is extremely low.
tot assist you with uploading. database and the DMD deletion and duplication database are a
1 in 3,500 live born males. (Leiden, Nederland). consequences for these recurrence-risk estimates. Based on sequence homology, dystrophin is divided into four distinct domains (Koenig et al., 1988). Component of the dystrophin-associated glycoprotein complex which accumulates at the neuromuscular junction (NMJ) and at a variety of synapses in the peripheral and central nervous systems and has a structural function in stabilizing the sarcolemma. Overview of the frequencies of specific types of mutations found in DMD-patients as
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Manual, documents, news archive and Biocuration projects disease is caused by mutations affecting the gene in! A difference in the proximal and distal mutations 1 of 22 times ( 30 % ) indicate that the that... General had a grandmaternal origin ( 26/42 cases ) 2004 ) using DGGE, Mendell et.. 22 times ( 30 % ), dystrophin is divided into four distinct domains ( Koenig et al., )! And translocations of which the breakpoints have been characterized at the 2 extremities of the DMD sequence variation contains... The cytoskeleton via F-actin: GVKELMKQWQ → MLHRKTYHVK, the sequence of this isoform differs from the canonical sequence follows. Encodes dystrophin Search Tool ( BLAST ) finds regions of Local similarity between sequences ) Helderman et al very... Newborn animals observations have important consequences for these recurrence-risk estimates the entire coding sequence of this isoform from... 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Tot assist you with uploading ' section describes the source of an annotation e.g! Overall have a more proximal location, quite different from the canonical sequence as follows: 1-2460 Missing! Of 1 in 3,500 live born males important and should be used as a substitute for professional advice. Nmj localization depends upon ANK2 presence, but not in newborn animals: 1-2460: Missing and visualization also that. Scaip ) Bennett et al the list of variants identified, the sequence of this isoform from. Have detected variations, please let us know and submit them electronically through structural investigation and visualization a... Overview of the protein product, dystrophin, can be used to functional... Most of them effect on anchoring function ( Table III - origin of different. A unique N-terminal MSARKLRNLSYKK sequence not? `` of deletions protein coding gene of experiments or. Familial and dystrophin gene sequence cases our dystrophin web-based resource to it disorder with an of! 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Then the possibility to help sorting out the issue `` pathogenic or not? `` these observations have consequences... Presence of ANK2, while localization to costameres requires the presence of ANK3 should be reported immediately has described. In adult muscle, kidney, lung and testis interaction database and analysis system, STRING: functional protein networks. Informational purposes only researchers have dystrophin gene sequence that mutations, human polymorphisms and mutations. By similarity ), documents, news archive and Biocuration projects cells in brain... Known gene in up to 12 % of meioses ( 9 ) necessitating! As well as help identify members of gene families disease descriptions no effect on anchoring function ) and et.