Paralogue Annotation for CACNA1C residue 402

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 402
Reference Amino Acid: G - Glycine
Protein Domain: TM domain 1


Paralogue Variants mapped to CACNA1C residue 402

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1FG369DNight blindness, congenital stationary, incompleteHigh9 9662399, 14973233, 15634789
SCN1AA420VGeneralized epilepsy with febrile seizures plusMedium9 22944210, 26096185
CACNA1DG403DPrimary aldosteronismHigh9 23913001
SCN8AA408TEpileptic encephalopathy, early infantile with movMedium9 26993267

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in CACNA1C.



CACNA1CVNDAVGRDWPWIYFVTLIIIGSFFVLNLVL>G<VLSGEFSKEREKAKARGDFQKLREKQQLEE432
CACNA1ASNDASGNTWNWLYFIPLIIIGSFFMLNLVL>G<VLSGEFAKERERVENRRAFLKLRRQQQIER387
CACNA1BTNDAAGNTWNWLYFIPLIIIGSFFMLNLVL>G<VLSGEFAKERERVENRRAFLKLRRQQQIER383
CACNA1DVNDAIGWEWPWVYFVSLIILGSFFVLNLVL>G<VLSGEFSKEREKAKARGDFQKLREKQQLEE433
CACNA1ETNDALGATWNWLYFIPLIIIGSFFVLNLVL>G<VLSGEFAKERERVENRRAFMKLRRQQQIER378
CACNA1FMQDAMGYELPWVYFVSLVIFGSFFVLNLVL>G<VLSGEFSKEREKAKARGDFQKQREKQQMEE399
CACNA1GVMDAHSF-YNFIYFILLIIVGSFFMINLCL>V<VIATQFSETKQRESQLMREQRVRFLSNAST422
CACNA1HVMDAHSF-YNFIYFILLIIVGSFFMINLCL>V<VIATQFSETKQRESQLMREQRARHLSNDST446
CACNA1IVMDAHSF-YNFIYFILLIIVGSFFMINLCL>V<VIATQFSETKQREHRLMLEQRQRYLS-SST424
CACNA1SVNDAIGNEWPWIYFVTLILLGSFFILNLVL>G<VLSGEFTKEREKAKSRGTFQKLREKQQLDE361
SCN10ATLRTSGKIY-MIFFVLVIFLGSFYLVNLIL>A<VVTMAYEEQNQATTDEIEAK-EKKFQEALE423
SCN11ATLRTTGLYS-VFFFIVVIFLGSFYLINLTL>A<VVTMAYEEQNKNVAAEIEAK-EKMFQEAQQ426
SCN1ATLRAAGKTY-MIFFVLVIFLGSFYLINLIL>A<VVAMAYEEQNQATLEEAEQK-EAEFQQMIE449
SCN2ATLRAAGKTY-MIFFVLVIFLGSFYLINLIL>A<VVAMAYEEQNQATLEEAEQK-EAEFQQMLE451
SCN3ATLRAAGKTY-MIFFVLVIFLGSFYLVNLIL>A<VVAMAYEEQNQATLEEAEQK-EAEFQQMLE450
SCN4ATLRAAGKTY-MIFFVVIIFLGSFYLINLIL>A<VVAMAYAEQNEATLAEDKEK-EEEFQQMLE473
SCN5ATLRSAGKIY-MIFFMLVIFLGSFYLVNLIL>A<VVAMAYEEQNQATIAETEEK-EKRFQEAME439
SCN7AILYASGKVY-MIFFVVVSFLFSFYMASLFL>G<ILAMAYEEEKQRVGEISKKI-EPKFQQTGK420
SCN8ATLRAAGKTY-MIFFVLVIFVGSFYLVNLIL>A<VVAMAYEEQNQATLEEAEQK-EAEFKAMLE437
SCN9ATLRAAGKTY-MIFFVVVIFLGSFYLINLIL>A<VVAMAYEEQNQANIEEAKQK-ELEFQQMLD428
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.G402Sc.1204G>A Inherited ArrhythmiaLQTSrs80315385SIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations. Proc Natl Acad Sci U S A. 2005 discussion 8086-8. 15863612
Inherited ArrhythmiaLQTS Timothy mutation disrupts the link between activation and inactivation in Ca(V)1.2 protein. J Biol Chem. 2011 286(36):31557-64. 21685391
Inherited ArrhythmiaLQTS A rare mutation of CACNA1C in a patient with bipolar disorder, and decreased gene expression associated with a bipolar-associated common SNP of CACNA1C in brain. Mol Psychiatry. 2013 23979604
Inherited ArrhythmiaLQTS Exome sequencing helped the fine diagnosis of two siblings afflicted with atypical Timothy syndrome (TS2). BMC Med Genet. 2014 15:48. doi: 10.1186/1471-2350-15-48. 24773605
Inherited ArrhythmiaLQTS Expanding the phenotype of Timothy syndrome type 2: an adolescent with ventricular fibrillation but normal development. Am J Med Genet A. 2015 167A(3):629-34. doi: 10.1002/ajmg.a.36924. 25691416