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Results for the Protein: P17302
117706

CXA1_HUMAN RecName: Full=Gap junction alpha-1 protein; AltName: Full=Connexin-43; Short=Cx43; AltName: Full=Gap junction 43 kDa heart protein

Known Diseases associated with this Protein:
  ATRIOVENTRICULAR SEPTAL DEFECT 3, INCLUDED
  CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE
  CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE (CMDR)
  HALLERMANN-STREIFF SYNDROME (HSS)
  HYPOPLASTIC LEFT HEART SYNDROME 1
  HYPOPLASTIC LEFT HEART SYNDROME 1 (HLHS1)
  OCULODENTODIGITAL DYSPLASIA
  OCULODENTODIGITAL DYSPLASIA (ODDD)
  OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE
  SYNDACTYLY 3 (SDTY3)
  SYNDACTYLY, TYPE III
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Default View:

Connexin - pfam00029
CNX - smart00037
Connexin_CCC - pfam10582
Connexin43 - pfam03508


Swiss-Prot Protein: P17302
Identical to: NP_000156
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Connexinpfam000292.9e-773109
Connexin43pfam035085.6e-09293312
CNXsmart000372.8e-214376
Connexin_CCCpfam105822.7e-44165231

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_059012Polymorphismp.ALA253PRON/A
Swiss-ProtVAR_014096Polymorphismp.ALA168THRN/A
Swiss-ProtVAR_015764Polymorphismp.ALA253VALN/A
Swiss-ProtVAR_015752Diseasep.ALA40VALOculodentodigital dysplasia (ODDD)
Swiss-ProtVAR_014098Polymorphismp.ARG202CYSN/A
Swiss-ProtVAR_014095Polymorphismp.ARG148GLNN/A
Swiss-ProtVAR_070441Diseasep.ARG239GLNCraniometaphyseal dysplasia, autosomal recessive (CMDR)
dbSNPrs2227885 Diseasep.ARG362GLNHypoplastic left heart syndrome 1 (HLHS1)
Swiss-ProtVAR_032925Diseasep.ARG376GLNHypoplastic left heart syndrome 1 (HLHS1)
Swiss-ProtVAR_015762Diseasep.ARG202HISOculodentodigital dysplasia (ODDD)
Swiss-ProtVAR_058997Diseasep.ARG76HISHallermann-Streiff syndrome (HSS)
Swiss-ProtVAR_015755Diseasep.ARG76SEROculodentodigital dysplasia (ODDD)
Swiss-ProtVAR_014100Polymorphismp.ARG239TRPN/A
Swiss-ProtVAR_014094Polymorphismp.ASP124GLUN/A
Swiss-ProtVAR_015753Diseasep.GLN49LYSOculodentodigital dysplasia (ODDD)
Swiss-ProtVAR_058994Diseasep.GLN49PROOculodentodigital dysplasia (ODDD)
Swiss-ProtVAR_059003Diseasep.GLU110ASPOculodentodigital dysplasia (ODDD)
Swiss-ProtVAR_059014Polymorphismp.GLU352GLYN/A
Swiss-ProtVAR_015761Diseasep.GLY138ARGOculodentodigital dysplasia (ODDD)
Swiss-ProtVAR_015749Diseasep.GLY21ARGOculodentodigital dysplasia (ODDD)
Swiss-ProtVAR_015750Diseasep.GLY22GLUOculodentodigital dysplasia (ODDD)
Swiss-ProtVAR_038361Diseasep.GLY143SERSyndactyly 3 (SDTY3)
Swiss-ProtVAR_058990Diseasep.GLY2VALOculodentodigital dysplasia (ODDD)
Swiss-ProtVAR_058998Diseasep.HIS95ARGOculodentodigital dysplasia (ODDD)
Swiss-ProtVAR_059008Diseasep.HIS194PROOculodentodigital dysplasia (ODDD)
Swiss-ProtVAR_038357Diseasep.ILE31METOculodentodigital dysplasia (ODDD)
Swiss-ProtVAR_015759Diseasep.ILE130THROculodentodigital dysplasia (ODDD)
Swiss-ProtVAR_059002Diseasep.LEU106PROOculodentodigital dysplasia (ODDD)
Swiss-ProtVAR_058992Diseasep.LEU11PROOculodentodigital dysplasia (ODDD)
Swiss-ProtVAR_038359Diseasep.LEU113PROOculodentodigital dysplasia (ODDD)
Swiss-ProtVAR_058991Diseasep.LEU7VALOculodentodigital dysplasia (ODDD)
Swiss-ProtVAR_015756Diseasep.LEU90VALOculodentodigital dysplasia (ODDD)
Swiss-ProtVAR_070440Diseasep.LYS206ARGOculodentodigital dysplasia (ODDD)
Swiss-ProtVAR_015758Diseasep.LYS102ASNOculodentodigital dysplasia (ODDD)
Swiss-ProtVAR_038360Diseasep.LYS134ASNOculodentodigital dysplasia (ODDD)
Swiss-ProtVAR_015760Diseasep.LYS134GLUOculodentodigital dysplasia (ODDD)
Swiss-ProtVAR_015751Diseasep.LYS23THROculodentodigital dysplasia (ODDD)
Swiss-ProtVAR_059004Diseasep.MET147THROculodentodigital dysplasia (ODDD)
Swiss-ProtVAR_058996Diseasep.PRO59HISOculodentodigital dysplasia (ODDD)
Swiss-ProtVAR_014101Polymorphismp.PRO283LEUN/A
Swiss-ProtVAR_059016Polymorphismp.SER365ASNN/A
Swiss-ProtVAR_059017Polymorphismp.SER373GLYN/A
Swiss-ProtVAR_059009Diseasep.SER201PHEOculodentodigital dysplasia (ODDD)
Swiss-ProtVAR_015748Diseasep.SER18PROOculodentodigital dysplasia (ODDD)
Swiss-ProtVAR_038356Diseasep.SER27PROOculodentodigital dysplasia (ODDD)
Swiss-ProtVAR_059015Polymorphismp.SER364PRON/A
Swiss-ProtVAR_059011Polymorphismp.SER251THRN/A
Swiss-ProtVAR_059010Diseasep.SER220TYROculodentodigital dysplasia (ODDD)
Swiss-ProtVAR_038358Diseasep.SER69TYROculodentodigital dysplasia (ODDD)
Swiss-ProtVAR_059005Diseasep.THR154ALAOculodentodigital dysplasia (ODDD)
Swiss-ProtVAR_059013Polymorphismp.THR326ALAN/A
Swiss-ProtVAR_059006Diseasep.THR154ASNOculodentodigital dysplasia (ODDD)
Swiss-ProtVAR_014102Polymorphismp.THR290ASNN/A
Swiss-ProtVAR_014099Polymorphismp.THR204METN/A
Swiss-ProtVAR_015757Diseasep.TYR98CYSOculodentodigital dysplasia (ODDD)
Swiss-ProtVAR_014097Polymorphismp.TYR185HISN/A
Swiss-ProtVAR_015747Diseasep.TYR17SEROculodentodigital dysplasia (ODDD)
Swiss-ProtVAR_058999Diseasep.VAL96ALAOculodentodigital dysplasia (ODDD)
Swiss-ProtVAR_059000Diseasep.VAL96GLUOculodentodigital dysplasia (ODDD)
Swiss-ProtVAR_015763Diseasep.VAL216LEUOculodentodigital dysplasia (ODDD)
Swiss-ProtVAR_058993Diseasep.VAL41LEUOculodentodigital dysplasia (ODDD)
Swiss-ProtVAR_059001Diseasep.VAL96METOculodentodigital dysplasia (ODDD)
OMIM121014.0021 Diseasep.ARG239GLNCRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE
OMIM121014.0011 Diseasep.ARG362GLNHYPOPLASTIC LEFT HEART SYNDROME 1||ATRIOVENTRICULAR SEPTAL DEFECT 3, INCLUDED
OMIM121014.0012 Diseasep.ARG376GLNHYPOPLASTIC LEFT HEART SYNDROME 1||ATRIOVENTRICULAR SEPTAL DEFECT 3, INCLUDED
OMIM121014.0017 Diseasep.ARG76HISOCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE
OMIM121014.0018 Diseasep.ARG76SEROCULODENTODIGITAL DYSPLASIA
OMIM121014.0016 Diseasep.ARG33TEROCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE
OMIM121014.0005 Diseasep.GLY21ARGOCULODENTODIGITAL DYSPLASIA
OMIM121014.0006 Diseasep.GLY22GLUOCULODENTODIGITAL DYSPLASIA
OMIM121014.0008 Diseasep.GLY143SERSYNDACTYLY, TYPE III
OMIM121014.0013 Diseasep.HIS194PROOCULODENTODIGITAL DYSPLASIA
OMIM121014.0020 Diseasep.LEU11PHEOCULODENTODIGITAL DYSPLASIA
OMIM121014.0014 Diseasep.LEU11PROOCULODENTODIGITAL DYSPLASIA
OMIM121014.0022 Diseasep.LYS206ARGOCULODENTODIGITAL DYSPLASIA
OMIM121014.0004 Diseasep.SER18PROOCULODENTODIGITAL DYSPLASIA
OMIM121014.0003 Diseasep.TYR17SEROCULODENTODIGITAL DYSPLASIA
OMIM121014.0009 Diseasep.VAL96METOCULODENTODIGITAL DYSPLASIA



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