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Results for the Protein: Q13936
308153651
775

CAC1C_HUMAN RecName: Full=Voltage-dependent L-type calcium channel subunit alpha-1C; AltName: Full=Calcium channel, L type, alpha-1 polypeptide, isoform 1, cardiac muscle; AltName: Full=Voltage-gated calcium channel subunit alpha Cav1.2

Known Diseases associated with this Protein:
  BRUGADA SYNDROME 3
  BRUGADA SYNDROME 3 (BRGDA3)
  TIMOTHY SYNDROME
  TIMOTHY SYNDROME (TS)
8
9
4
3
10
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Default View:

Ion_trans - pfam00520
Ca_chan_IQ - pfam08763


Swiss-Prot Protein: Q13936
Identical to: NP_955630
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Ion_transpfam005201.5e-80161404
Ion_transpfam005203.5e-61558752
Ion_transpfam005205.9e-749551185
Ion_transpfam005204e-8112731523
Ca_chan_IQpfam087631.5e-1716591690

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs61738859 Polymorphismp.ALA48ASPN/A
Swiss-ProtVAR_001496Polymorphismp.ALA2169THRN/A
Swiss-ProtVAR_001495Polymorphismp.ALA752THRN/A
Swiss-ProtVAR_044039Diseasep.ALA39VALBrugada syndrome 3 (BRGDA3)
Swiss-ProtVAR_045987Polymorphismp.GLN84ARGN/A
Swiss-ProtVAR_026742Diseasep.GLY406ARGTimothy syndrome (TS)
Swiss-ProtVAR_044040Diseasep.GLY490ARGBrugada syndrome 3 (BRGDA3)
Swiss-ProtVAR_026741Diseasep.GLY402SERTimothy syndrome (TS)
Swiss-ProtVAR_045988Polymorphismp.ILE391LEUN/A
Swiss-ProtVAR_061102Polymorphismp.LYS1893ARGN/A
dbSNPrs10774053 Polymorphismp.MET1869VALN/A
dbSNPrs10848683 Polymorphismp.PRO1868LEUN/A
Swiss-ProtVAR_064700Polymorphismp.SER878ARGN/A
OMIM114205.0004 Diseasep.ALA39VALBRUGADA SYNDROME 3
OMIM114205.0001 Diseasep.GLY406ARGTIMOTHY SYNDROME
OMIM114205.0003 Diseasep.GLY490ARGBRUGADA SYNDROME 3
OMIM114205.0002 Diseasep.GLY402SERTIMOTHY SYNDROME



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