Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: Q8TF17
46396469

S3TC2_HUMAN RecName: Full=SH3 domain and tetratricopeptide repeat-containing protein 2

Known Diseases associated with this Protein:
  CHARCOT-MARIE-TOOTH DISEASE 4C (CMT4C)
  CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
  MONONEUROPATHY OF THE MEDIAN NERVE MILD (MNMN)
  MONONEUROPATHY OF THE MEDIAN NERVE, MILD, INCLUDED
10
4
6
4
4
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:

SH3_2 - pfam07653
TPR - smart00028


Swiss-Prot Protein: Q8TF17
Identical to: NP_078853
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
SH3_2pfam076530.00044180237
TPRsmart000280.00111661199

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs6875902 Polymorphismp.ALA468SERN/A
Swiss-ProtVAR_018270Diseasep.ARG658CYSCharcot-Marie-Tooth disease 4C (CMT4C)
Swiss-ProtVAR_018268Diseasep.ARG529GLNCharcot-Marie-Tooth disease 4C (CMT4C)
dbSNPrs73795753 Polymorphismp.ASN897LYSN/A
Swiss-ProtVAR_018269Diseasep.GLU657LYSCharcot-Marie-Tooth disease 4C (CMT4C)
dbSNPrs17722293 Polymorphismp.GLY171GLUN/A
dbSNPrs17109261 Polymorphismp.HIS696ARGN/A
Swiss-ProtVAR_064421Diseasep.TYR169HISMononeuropathy of the median nerve mild (MNMN)
OMIM608206.0001 Diseasep.ARG529GLNCHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
OMIM608206.0006 Diseasep.ARG1109TERCHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
OMIM608206.0005 Diseasep.ARG954TERCHARCOT-MARIE-TOOTH DISEASE, TYPE 4C||MONONEUROPATHY OF THE MEDIAN NERVE, MILD, INCLUDED
OMIM608206.0007 Diseasep.GLU657LYSCHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
OMIM608206.0008 Diseasep.TYR169HISCHARCOT-MARIE-TOOTH DISEASE, TYPE 4C||MONONEUROPATHY OF THE MEDIAN NERVE, MILD, INCLUDED
OMIM608206.0004 Diseasep.TYR943TERCHARCOT-MARIE-TOOTH DISEASE, TYPE 4C



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