Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: NP_001139327
224994219

SH3 domain-binding protein 2 isoform c [Homo sapiens]

Known Diseases associated with this Protein:
  CHERUBISM
7
0
7
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:

PH - smart00233
PH - pfam00169
PH_GRP1-like - cd01252
PH_AGAP - cd01250
PH-like - cd00900
PH - cd00821
SH2 - smart00252
SH2 - cd00173
SH2 - pfam00017




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
PHcd008211.8e-1857156
PH-likecd009001.1e-0957156
PH_AGAPcd012509.5e-0557156
SH2cd001731.4e-14484583
PHpfam001697.1e-2355158
SH2pfam000170.00022494566
PHsmart002332.4e-1855158
SH2smart002521.4e-18474572

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM602104.0005 Diseasep.ARG386GLNCHERUBISM
OMIM602104.0004 Diseasep.ARG386PROCHERUBISM
OMIM602104.0006 Diseasep.GLY391ARGCHERUBISM
OMIM602104.0007 Diseasep.GLY391GLUCHERUBISM
OMIM602104.0002 Diseasep.PRO389ARGCHERUBISM
OMIM602104.0003 Diseasep.PRO389HISCHERUBISM
OMIM602104.0001 Diseasep.PRO389LEUCHERUBISM



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