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Results for the Protein: O75712
6014758

CXB3_HUMAN RecName: Full=Gap junction beta-3 protein; AltName: Full=Connexin-31; Short=Cx31

Known Diseases associated with this Protein:
  DEAFNESS, AUTOSOMAL DOMINANT 2B
  DEAFNESS, AUTOSOMAL DOMINANT, 2B (DFNA2B)
  DEAFNESS, AUTOSOMAL RECESSIVE
  DEAFNESS, DIGENIC, GJB2/GJB3
  ERYTHROKERATODERMIA VARIABILIS (EKV)
  ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA
17
3
10
3
7
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Default View:

Connexin - pfam00029
CNX - smart00037
Connexin_CCC - pfam10582


Swiss-Prot Protein: O75712
Identical to: NP_001005752, NP_076872
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
CNXsmart000372.4e-204275
Connexin_CCCpfam105821.3e-37141209

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_015085Diseasep.ARG42PROErythrokeratodermia variabilis (EKV)
dbSNPrs1805063 Polymorphismp.ARG32TRPN/A
Swiss-ProtVAR_002149Diseasep.CYS86SERErythrokeratodermia variabilis (EKV)
Swiss-ProtVAR_002150Diseasep.GLU183LYSDeafness, autosomal dominant, 2B (DFNA2B)
Swiss-ProtVAR_002148Diseasep.GLY12ARGErythrokeratodermia variabilis (EKV)
Swiss-ProtVAR_002147Diseasep.GLY12ASPErythrokeratodermia variabilis (EKV)
Swiss-ProtVAR_015087Diseasep.ILE141VALDeafness, autosomal dominant, 2B (DFNA2B)
Swiss-ProtVAR_015086Diseasep.PHE137LEUErythrokeratodermia variabilis (EKV)
dbSNPrs200004121 Polymorphismp.THR238PRON/A
dbSNPrs61734064 Polymorphismp.VAL200ILEN/A
OMIM603324.0012 Diseasep.ALA194THRDEAFNESS, DIGENIC, GJB2/GJB3
OMIM603324.0008 Diseasep.ARG42PROERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA
OMIM603324.0005 Diseasep.ARG180TERDEAFNESS, AUTOSOMAL DOMINANT 2B
OMIM603324.0011 Diseasep.ASN166SERDEAFNESS, DIGENIC, GJB2/GJB3
OMIM603324.0003 Diseasep.CYS86SERERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA
OMIM603324.0004 Diseasep.GLU183LYSDEAFNESS, AUTOSOMAL DOMINANT 2B
OMIM603324.0001 Diseasep.GLY12ARGERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA
OMIM603324.0002 Diseasep.GLY12ASPERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA
OMIM603324.0007 Diseasep.ILE141VALDEAFNESS, AUTOSOMAL RECESSIVE
OMIM603324.0010 Diseasep.LEU34PROERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA



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