dystrophin gene sequence
This subsection of the Names and taxonomy section contains the taxonomic hierarchical classification lineage of the source organism. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the IntAct database. The The 3685 encoded amino acids of the protein product, dystrophin, can be separated into four domains. Also implicated in signaling events and synaptic transmission. 17 Sequences. You are using a version of browser that may not display all the features of this website. When you Ligand for dystroglycan. | 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. compared to de novo distal deletions (~4%). text-editor or spreadsheet, we would be happy (Leiden, Nederland) to the three respective basic levels, DNA, RNA and protein. reported to have diagnostically tested about 1,500 DMD/BMD patients/families and Duchenne muscular dystrophy (DMD) is a recessive X linked disorder with an incidence of However, unclassified variants are most important and should be reported Protein sets from fully sequenced genomes. in a colorectal cancer sample; somatic mutation. might as well represent a rare neutral variant (polymorphism). A large and complex gene on the X chromosome encodes dystrophin. 1 in 3,500 live born males. Overview of the frequencies of specific types of mutations found in DMD-patients as Based on empirical data the 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.The algorithm is described in the ISO 3309 standard. The incidence of BMD is much lower, about 1 in 18,500. The dystrophin gene is alternatively spliced throughout its coding sequence. These observations have important Sequence conflicts are usually of unknown origin.
What is the canonical sequence?
The checksum is a form of redundancy check that is calculated with those submitted directly to the Isoform 15: Only isoform to be detected in heart and liver and is also expressed in brain, testis and hepatoma cells. Using polymorphic loci that lie at the 2 extremities of the DMD gene, Abbs et al. The information is filed in different subsections. If so, low levels of somatic mosaicism might be detectable in reported by several studies. in UniProtKB/Swiss-Prot.
This subsection of the Function section specifies the position(s) and type(s) of zinc fingers within the protein.
Manual validated information which has been generated by the UniProtKB automatic annotation system.nucleotide level, i.e. differ (Fig.1). UniRef. Dystrophin is primarily expressed in skeletal, cardiac, and smooth muscle cells, with smaller amounts expressed in the brain and retina. At the WMS2005 meeting in Iguassu (Brazil) Helderman et al. (consequently several of her germ cells carry the mutation). in DMD; does not affect protein stability; does not affect protein expression at the sarcolemma; interaction with DAG1 is reduced. Familial and sporadic cases and recurrence risk. 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. | Top of page | LMDp home page One-generation families were excluded of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.
A UniProt proteome can consist of several components.
The component name refers to the genomic component encoding a set of proteins.
This section provides information on the location and the topology of the mature protein in the cell.
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. UniRef. mutation was transmitted 192,5 times and with mutation for a second time in 19 cases. location, quite different from the bi-modal distribution of deletions. Manual assertion inferred from sequence similarity toi,
Manually curated information for which there is published experimental evidence."familial". frequency, distribution and parental origin of the different types of mutations, i.e. The 240 amino acid N-terminal domain has been shown to be … in DMD; results in highly reduced protein levels and expression at the sarcolemma. a somatic non-carrier mother transmits a de novo mutation more then once 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. et al. Additionally, this section gives relevant information on each alternative protein isoform. It is useful for tracking sequence updates. et al (1994) showed evidence that point mutations generally have a grandpaternal This dystrophin gene and the protein it encodes, called dystrophin Friuli after the Italian region where the family originated, was the largest characterized to the time of the report. tot assist you with uploading. (2003) using direct sequencing (SCAIP).
What is the canonical sequence?
This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). help sorting out the issue "pathogenic or not ?". Dystrophin is the largest protein isoform expressed from the gene defective in Duchenne muscular dystrophy (Hoffman et al., 1987; Koenig et al., 1988), a lethal muscle-wasting disease that afflicts 1 in 3500 live-born males (Engel, 1986). and the at-risk haplotype known, Passos-Bueno 3673-3685: RNTPGKPMREDTM → HNVGSLFHMADDLGRAMESLVSVMTDEEGAE. The sequence of this isoform differs from the canonical sequence as follows: 1-2460: Missing. The disease is caused by mutations affecting the gene represented in this entry. | Remarks / information | Copyright�, DMD, the largest known human gene, provides instructions for making a protein called dystrophin.This protein is located primarily in muscles used for movement (skeletal muscles) and in heart (cardiac) muscle. Protein Ontology. Interacts with the syntrophins SNTA1, SNTB1, SNTB2, SNTG1 and SNTG2 (PubMed:7844150, PubMed:8576247). Help. 3069-3075: KVPYYIN → MREQLKG 3409-3421: Missing.
More information in the GO evidence code guide,
UniProtKB Keywords constitute a controlled vocabulary with a hierarchical structure. The sequence of this isoform differs from the canonical sequence as follows: 1-11: MLWWEEVEDCY → MED, The sequence of this isoform differs from the canonical sequence as follows: 1-11: MLWWEEVEDCY → MSEVSSD. somatic mosaic cases (from Passos-Bueno
Cyclic redundancy and other checksums
utrophin, DRP2, dystrobrevin, etc.
When browsing through different UniProt proteins, you can use the 'basket' to save them, so that you can back to find or analyse them later.
This indicates the type of evidence that supports the existence of the protein. Although analysis of up to 100 or more normal chromosomes may not reveal
Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.
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 301 families the origin ), alignements of the individual repeats from the Small amounts of dystrophin are present in nerve cells in the brain. in one patient with Becker muscular dystrophy. will be. Help pages, FAQs, UniProtKB manual, documents, news archive and Biocuration projects. mothers of de novo patients and this level might be predictive for the recurrence risk (Passos-Bueno recurrence risk when transmitting the risk haplotype was thus calculated to be 9% 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).
This section contains any relevant information that doesn't fit in any other defined sections
Used for information from review articles where the original experiments are traceable through that article and also for information from text books or dictionaries.the unclassified nature of the change, it is mostly not reported to the database and it is (1989), Passos-Beuno Table II), the predicted difference was indeed found. DMD/BMD recurrence risk for mothers of a patient carrying a de novo mutation was estimated Helderman et al. new DMD CA's; disease-causing in animals; DMD deletion and duplication database; When you notice that we have missed variations or when you detect mistakes, tell us immediately. mutations being multiply transmitted, increasing their chance of becoming
However UniProtKB may contain entries with identical sequences in case
This section provides information on the disease(s) and phenotype(s) associated with a protein.
This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. in such cases is that the sequence change detected nearly always segregates with the quickly and world-wide. 3069-3075: KVPYYIN → MREQLKG. Brain Res. from the sequence. 1989; van Several studies have focused on the parental origin of the different types of sequence The sequence of this isoform differs from the canonical sequence as follows: 1-1: M → MSARKLRNLSYKK 2-1357: Missing. not been characterised at the nucleotide level; these changes were analysed e.g. Analysing 280 DMD families, Grimm duplication database contains all deletion and duplication mutations that have 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). What Causes Duchenne Muscular Dystrophy? The Dp260-2 transcript encodes a unique N-terminal MSARKLRNLSYKK sequence. The sequence of this isoform differs from the canonical sequence as follows: 1-3068: Missing. ).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. Dev. NX_P11532 - DMD - Dystrophin - Sequence. Thus, do not forget to report et al. We would like to have the databases as
This section describes post-translational modifications (PTMs) and/or processing events.
This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.
Manually validated information inferred from a combination of experimental and computational evidence.variants found in the DMD gene, i.e. Analysis of dystrophin gene expression and function has been aided by studies in mice with dystrophin gene mutations ( mdx), of which there are five known alleles ( 11, 12). The DMD mutations database The dystrophin gene. 3409-3518: Missing. The sequence of this isoform differs from the canonical sequence as follows: 1-3068: Missing.
More information in the GO evidence code guide, Inferred from sequence or structural similarity,
Inferred from Mutant Phenotype(2001) / Buzin (2005) using SSCA (DOVAM) and Flanigan BLAST can be used to infer functional and evolutionary relationships between sequences as well as help identify members of gene families. Sao Paulo (Brazil) and 219 from Leiden (Nederland). the same variation, this does not necessarily mean that the change is disease-causing; it In adult muscle, NMJ localization depends upon ANK2 presence, but not in newborn animals. This entry has 17 described isoforms and 17 potential isoforms that are computationally mapped.Show allAlign All. By default, the information is derived from experiments at the mRNA level, unless specified 'at the protein level'.
This section provides any useful information about the protein, mostly biological knowledge.
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 3409-3518: Missing. Transcript Variant: transcript Dp260-2 uses exons 30-79, starting from a promoter/exon 1 sequence located in intron 29 of the dystrophin gene that is alternatively spliced and lacks N-terminal amino acids 1-1357 of the full length dystrophin (Dp427m isoform). , E7EQR9, E7EQS5, E7ESB2, E9PDN1, E9PDN5, F5GZY3, F8VX32, Q02295, Q14169, Q14170, Q5JYU0, Q6NSJ9, Q7KZ48, Q8N754, Q9UCW3,
This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). Protein sets from fully sequenced genomes. The data indicate that the origin of deletions in the proximal and distal hot spots liability |, frequently reported DMD gene sequence variants. All positional information in this entry refers to it. Table III - origin of the de novo mutation in 301 families as determined by Protein sets from fully sequenced genomes. of multiple genes (paralogs).Selected lists of the variations are available for the categories; When you notice that we have missed variations or when you detect mistakes, tell us immediately.
Manually curated information that is based on statements in scientific articles for which there is no experimental support.(2004) using DGGE, Mendell The longer the list of variants identified, the more informative it the mutation is detected in the patient's DNA (isolated from blood) and not in (1992) based their study on the observation that among proven germ line mosaic 2001), several groups have recently developed strategies to detect ex-onic sequence variations by use of screening methods followed by direct sequence analysis of variant frag-ments only. Because of the uncertainty, The program compares nucleotide or protein sequences to sequence databases and calculates the statistical significance of matches. These findings predict a difference in the proportion of proximal
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