Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: NP_004008
5032301
DMD

dystrophin Dp71a isoform [Homo sapiens]

Known Diseases associated with this Protein:
  B-WAVE
  BECKER MUSCULAR DYSTROPHY
  DUCHENNE MUSCULAR DYSTROPHY
  DUCHENNE MUSCULAR DYSTROPHY, MENTAL RETARDATION, AND ABSENCE OF ERG
5
0
5
0
0
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

 Clicking a check box will display or hide the correlated domain.

 To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.



Default View:

efhand_1 - pfam09068
efhand_2 - pfam09069
ZnF_ZZ - smart00291
ZZ - pfam00569
ZZ_dystrophin - cd02334
ZZ - cd02249


RefSeq Protein: NP_004008
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
ZZ_dystrophincd023343.8e-30243291
ZZpfam005691.8e-24239284
efhand_1pfam090687.4e-7419139
efhand_2pfam090692.6e-64143234
ZnF_ZZsmart002912.9e-17239283

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM300377.0070 Diseasep.ALA1VALBECKER MUSCULAR DYSTROPHY
OMIM300377.0076 Diseasep.ARG122TERDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0007 Diseasep.ARG302TERDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0067 Diseasep.ARG313TERDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0026 Diseasep.CYS272TYRDUCHENNE MUSCULAR DYSTROPHY, MENTAL RETARDATION, AND ABSENCE OF ERG||B-WAVE



   |   1000 Hilltop Circle, Baltimore, MD 21250   |   Department of Biological Sciences   |   Phone: 410-455-2258