Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: NP_001007469
55956801

SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 isoform b [Homo sapiens]

Known Diseases associated with this Protein:
  MENTAL RETARDATION, AUTOSOMAL DOMINANT 15
  SCHWANNOMATOSIS
  SCHWANNOMATOSIS, SOMATIC
6
0
6
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:

SNF5 - pfam04855




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM601607.0013 Diseasep.ARG368HISMENTAL RETARDATION, AUTOSOMAL DOMINANT 15
OMIM601607.0014 Diseasep.ARG37HISMENTAL RETARDATION, AUTOSOMAL DOMINANT 15
OMIM601607.0005 Diseasep.GLN12TERSCHWANNOMATOSIS
OMIM601607.0006 Diseasep.GLN173TERSCHWANNOMATOSIS, SOMATIC
OMIM601607.0010 Diseasep.GLU31VALSCHWANNOMATOSIS
OMIM601607.0011 Diseasep.PRO48LEUSCHWANNOMATOSIS



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