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Results for the Protein: NP_001123311
193794832
775

voltage-dependent L-type calcium channel subunit alpha-1C isoform 13 [Homo sapiens]

Known Diseases associated with this Protein:
  BRUGADA SYNDROME 3
  TIMOTHY SYNDROME
4
1
4
1
0
Tips:
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Default View:

Ion_trans - pfam00520
Ca_chan_IQ - pfam08763




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Ion_transpfam005203.5e-61558752
Ion_transpfam005201e-739351165
Ion_transpfam005201.4e-7412531462
Ca_chan_IQpfam087631.5e-1716171648

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs61738859 Polymorphismp.ALA48ASPN/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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