Paralogue Annotation for CACNA1C residue 1493

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1493
Reference Amino Acid: H - Histidine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1493

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AD1790GLong QT syndromeMedium8 9686753, 11150514, 20102920, 26304620
SCN5AD1790NSick sinus syndrome, autosomal recessiveMedium8 23200271

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.



CACNA1CAFLIINLFVAVIMDNFDYLTRDWSI-LGPH>H<LDEFKRIWAEYDPEAKGRIKHLDVVTLLRR1523
CACNA1ASFLMLNLFVAVIMDNFEYLTRDSSI-LGPH>H<LDEYVRVWAEYDPAACGRIHYKDMYSLLRV1858
CACNA1BSFLMLNLFVAVIMDNFEYLTRDSSI-LGPH>H<LDEFIRVWAEYDPAACGRISYNDMFEMLKH1756
CACNA1DAFLIINLFVAVIMDNFDYLTRDWSI-LGPH>H<LDEFKRIWSEYDPEAKGRIKHLDVVTLLRR1531
CACNA1ESFLMLNLFVAVIMDNFEYLTRDSSI-LGPH>H<LDEFVRVWAEYDRAACGRIHYTEMYEMLTL1770
CACNA1FAFLIINLFVAVIMDNFDYLTRDWSI-LGPH>H<LDEFKRIWSEYDPGAKGRIKHLDVVALLRR1488
CACNA1GQFVLVNVVIAVLMKHLEESNKEAKE---EA>E<LEAELELEMKT-LSPQPHSPLGSPF-LWPG1894
CACNA1HQFVLVNVVVAVLMKHLEESNKEARE---DA>E<LDAEIELEMAQGPGSARRVDADRP------1899
CACNA1IQFVLINVVVAVLMKHLDDSNKEAQE---DA>E<MDAELELEMAHGLGPGPRLPTGSPGAPGR-1774
CACNA1SAFLVINLFVAVIMDNFDYLTRDWSI-LGPH>H<LDEFKAIWAEYDPEAKGRIKHLDVVTLLRR1428
SCN10AFLIMVNMYIAVILENFNVATEESTEPLSED>D<FDMFYETWEKFDPEATQFITFSALSDFADT1770
SCN11AFLIVVNMYIAVILENFNTATEESEDPLGED>D<FDIFYEVWEKFDPEATQFIKYSALSDFADA1652
SCN1AFLVVVNMYIAVILENFSVATEESAEPLSED>D<FEMFYEVWEKFDPDATQFMEFEKLSQFAAA1834
SCN2AFLVVVNMYIAVILENFSVATEESAEPLSED>D<FEMFYEVWEKFDPDATQFIEFAKLSDFADA1824
SCN3AFLVVVNMYIAVILENFSVATEESAEPLSED>D<FEMFYEVWEKFDPDATQFIEFSKLSDFAAA1819
SCN4AFLIVVNMYIAIILENFNVATEESSEPLGED>D<FEMFYETWEKFDPDATQFIAYSRLSDFVDT1646
SCN5AFLIVVNMYIAIILENFSVATEESTEPLSED>D<FDMFYEIWEKFDPEATQFIEYSVLSDFADA1820
SCN7AWLIIVNMYIVVVMEFLNIASKKKNKTLSED>D<FRKFFQVWKRFDPDRTQYIDSSKLSDFAAA1544
SCN8AFLIVVNMYIAIILENFSVATEESADPLSED>D<FETFYEIWEKFDPDATQFIEYCKLADFADA1814
SCN9AFLVVVNMYIAVILENFSVATEESTEPLSED>D<FEMFYEVWEKFDPDATQFIEFSKLSDFAAA1797
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1493 for CACNA1C.