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Results for the Protein: P36382
8928556

CXA5_HUMAN RecName: Full=Gap junction alpha-5 protein; AltName: Full=Connexin-40; Short=Cx40

Known Diseases associated with this Protein:
  ATRIAL FIBRILLATION, FAMILIAL, 11
  ATRIAL FIBRILLATION, FAMILIAL, 11 (ATFB11)
  ATRIAL FIBRILLATION, SOMATIC
  ATRIAL STANDSTILL (ATST)
11
0
6
0
5
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Default View:

Connexin - pfam00029
CNX - smart00037
Connexin_CCC - pfam10582


Swiss-Prot Protein: P36382
Identical to: NP_859054, NP_005257
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
CNXsmart000371.9e-204376
Connexin_CCCpfam105822.7e-42163229

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_035014Diseasep.ALA96SERAtrial standstill (ATST)
Swiss-ProtVAR_066250Diseasep.LEU221ILEAtrial fibrillation, familial, 11 (ATFB11)
Swiss-ProtVAR_066251Diseasep.LEU229METAtrial fibrillation, familial, 11 (ATFB11)
Swiss-ProtVAR_035013Diseasep.PRO88SERAtrial standstill (ATST)
Swiss-ProtVAR_066249Diseasep.VAL85ILEAtrial fibrillation, familial, 11 (ATFB11)
OMIM121013.0001 Diseasep.ALA96SERATRIAL FIBRILLATION, FAMILIAL, 11
OMIM121013.0003 Diseasep.GLN49TERATRIAL FIBRILLATION, FAMILIAL, 11
OMIM121013.0005 Diseasep.LEU221ILEATRIAL FIBRILLATION, FAMILIAL, 11
OMIM121013.0006 Diseasep.LEU229METATRIAL FIBRILLATION, FAMILIAL, 11
OMIM121013.0002 Diseasep.PRO88SERATRIAL FIBRILLATION, SOMATIC
OMIM121013.0004 Diseasep.VAL85ILEATRIAL FIBRILLATION, FAMILIAL, 11



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