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Results for the Protein: Q9Y6H8
311033478

CXA3_HUMAN RecName: Full=Gap junction alpha-3 protein; AltName: Full=Connexin-46; Short=Cx46

Known Diseases associated with this Protein:
  CATARACT 14, COPPOCK-LIKE
  CATARACT 14, EMBRYONAL NUCLEAR
  CATARACT 14, MULTIPLE TYPES (CTRCT14)
  CATARACT 14, NUCLEAR CORALLIFORM
  CATARACT 14, NUCLEAR PULVERULENT
  CATARACT 14, NUCLEAR PULVERULENT AND POSTERIOR POLAR
  CATARACT 14, ZONULAR PULVERULENT
24
2
8
0
18
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Default View:

Connexin - pfam00029
CNX - smart00037
Connexin_CCC - pfam10582


Swiss-Prot Protein: Q9Y6H8
Identical to: NP_068773
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Connexinpfam000297e-843109
CNXsmart000374e-224376
Connexin_CCCpfam105822e-49159225

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_066716Diseasep.ARG76GLYCataract 14, multiple types (CTRCT14)
Swiss-ProtVAR_030023Diseasep.ARG76HISCataract 14, multiple types (CTRCT14)
Swiss-ProtVAR_066713Diseasep.ARG33LEUCataract 14, multiple types (CTRCT14)
Swiss-ProtVAR_009158Diseasep.ASN63SERCataract 14, multiple types (CTRCT14)
Swiss-ProtVAR_066719Diseasep.ASN188THRCataract 14, multiple types (CTRCT14)
Swiss-ProtVAR_066715Diseasep.ASP47ASNCataract 14, multiple types (CTRCT14)
Swiss-ProtVAR_066711Diseasep.ASP3TYRCataract 14, multiple types (CTRCT14)
Swiss-ProtVAR_066710Diseasep.GLY2ASPCataract 14, multiple types (CTRCT14)
Swiss-ProtVAR_022426Polymorphismp.LEU299METN/A
Swiss-ProtVAR_030020Polymorphismp.LEU11SERN/A
Swiss-ProtVAR_030021Diseasep.PHE32LEUCataract 14, multiple types (CTRCT14)
Swiss-ProtVAR_023447Diseasep.PRO187LEUCataract 14, multiple types (CTRCT14)
Swiss-ProtVAR_030022Diseasep.PRO59LEUCataract 14, multiple types (CTRCT14)
Swiss-ProtVAR_066718Diseasep.PRO187SERCataract 14, multiple types (CTRCT14)
Swiss-ProtVAR_066717Diseasep.THR87METCataract 14, multiple types (CTRCT14)
Swiss-ProtVAR_038796Diseasep.TRP45SERCataract 14, multiple types (CTRCT14)
Swiss-ProtVAR_066712Diseasep.VAL28METCataract 14, multiple types (CTRCT14)
Swiss-ProtVAR_066714Diseasep.VAL44METCataract 14, multiple types (CTRCT14)
OMIM121015.0004 Diseasep.ARG76HISCATARACT 14, ZONULAR PULVERULENT
OMIM121015.0007 Diseasep.ASN188ILECATARACT 14, NUCLEAR CORALLIFORM
OMIM121015.0001 Diseasep.ASN63SERCATARACT 14, ZONULAR PULVERULENT
OMIM121015.0005 Diseasep.ASN188THRCATARACT 14, NUCLEAR PULVERULENT
OMIM121015.0009 Diseasep.GLY143ARGCATARACT 14, COPPOCK-LIKE
OMIM121015.0006 Diseasep.GLY2ASPCATARACT 14, NUCLEAR PULVERULENT AND POSTERIOR POLAR
OMIM121015.0008 Diseasep.PHE206ILECATARACT 14, EMBRYONAL NUCLEAR
OMIM121015.0003 Diseasep.PRO187LEUCATARACT 14, ZONULAR PULVERULENT



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