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Results for the Protein: O95452
34978349

CXB6_HUMAN RecName: Full=Gap junction beta-6 protein; AltName: Full=Connexin-30; Short=Cx30

Known Diseases associated with this Protein:
  DEAFNESS, AUTOSOMAL DOMINANT 3B
  DEAFNESS, AUTOSOMAL DOMINANT, 3B (DFNA3B)
  ECTODERMAL DYSPLASIA 2, CLOUSTON TYPE (ECTD2)
  ECTODERMAL DYSPLASIA, HIDROTIC
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Default View:

Connexin - pfam00029
CNX - smart00037
Connexin_CCC - pfam10582




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
CNXsmart000371.4e-214275
Connexin_CCCpfam105822.7e-42146213

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_015697Diseasep.ALA88VALEctodermal dysplasia 2, Clouston type (ECTD2)
Swiss-ProtVAR_048825Polymorphismp.ASN159SERN/A
Swiss-ProtVAR_015696Diseasep.GLY11ARGEctodermal dysplasia 2, Clouston type (ECTD2)
Swiss-ProtVAR_057960Polymorphismp.GLY59ARGN/A
Swiss-ProtVAR_022424Polymorphismp.SER139GLYN/A
Swiss-ProtVAR_022425Polymorphismp.SER199THRN/A
Swiss-ProtVAR_008711Diseasep.THR5METDeafness, autosomal dominant, 3B (DFNA3B)
Swiss-ProtVAR_016838Diseasep.VAL37GLUEctodermal dysplasia 2, Clouston type (ECTD2)
OMIM604418.0003 Diseasep.ALA88VALECTODERMAL DYSPLASIA, HIDROTIC
OMIM604418.0002 Diseasep.GLY11ARGECTODERMAL DYSPLASIA, HIDROTIC
OMIM604418.0001 Diseasep.THR5METDEAFNESS, AUTOSOMAL DOMINANT 3B
OMIM604418.0005 Diseasep.VAL37GLUECTODERMAL DYSPLASIA, HIDROTIC



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