Basic Information

Symbol
DMD
RNA class
mRNA
Alias
Dystrophin DXS142 DXS164 DXS206 DXS230 DXS239 DXS268 DXS269 DXS270 DXS272 BMD MRX85 Dystrophin (Muscular Dystrophy, Duchenne And Becker Types), Includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272 Muscular Dystrophy, Duchenne And Becker Types Mental Retardation, X-Linked 85 Mutant Dystrophin CMD3B
Location (GRCh38)
X:31097677-33339609
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
-
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_004006.3
Sequence length
13992.0 nt
GC content
0.4225

Secondary Structure

Generated by RNAfold
Minimum free energy (MFE) structure:
Secondary structure that contributes a minimum of free energy.
Ensemble properties:
Thermodynamic properties of the Boltzmann ensemble.
Minimum free energy
- kcal/mol
MFE Structure Visualization
Structure Prediction
MFE Structure Prediction
-

Transcripts

ID Sequence Length GC content
NM_004017.3 NCBI
GCAGUGCUUUCAGCUGUGAGCUUGGGCGGCGGCGGCGGCGGCGCUCCAC… 4637 nt 0.4059
NM_004018.3 NCBI
GCAGUGCUUUCAGCUGUGAGCUUGGGCGGCGGCGGCGGCGGCGCUCCAC… 4605 nt 0.4054
NM_004019.3 NCBI
GCAGUGCUUUCAGCUGUGAGCUUGGGCGGCGGCGGCGGCGGCGCUCCAC… 1618 nt 0.4543
NM_004020.4 NCBI
ACACUAGCAAUGGCAAAGCUUUGUGCGGAGGCAUUGCUGGCUGCUCUGA… 7086 nt 0.4222
NM_004021.3 NCBI
ACACUAGCAAUGGCAAAGCUUUGUGCGGAGGCAUUGCUGGCUGCUCUGA… 7384 nt 0.4238
NM_004022.3 NCBI
ACACUAGCAAUGGCAAAGCUUUGUGCGGAGGCAUUGCUGGCUGCUCUGA… 7345 nt 0.4234
NM_004023.3 NCBI
ACACUAGCAAUGGCAAAGCUUUGUGCGGAGGCAUUGCUGGCUGCUCUGA… 7054 nt 0.4220
Showing 11 to 17 of 17 entries
Summary

This gene spans a genomic range of greater than 2 Mb and encodes a large protein containing an N-terminal actin-binding domain and multiple spectrin repeats. The encoded protein forms a component of the dystrophin-glycoprotein complex (DGC), which bridges the inner cytoskeleton and the extracellular matrix. Deletions, duplications, and point mutations at this gene locus may cause Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), or cardiomyopathy. Alternative promoter usage and alternative splicing result in numerous distinct transcript variants and protein isoforms for this gene. [provided by RefSeq, Dec 2016]

Forensic Context

No relevant information is available at the moment.