Paralogue Annotation for CACNA1C residue 1223

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1223
Reference Amino Acid: Y - Tyrosine
Protein Domain: Interdomain Linker III-IV


Paralogue Variants mapped to CACNA1C residue 1223

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AV1532ILong QT syndromeMedium9 19716085, 24055113, 25637381
SCN1AI1545VMyoclonic epilepsy of infancyMedium9 17347258, 22409937

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.



CACNA1C----LRRYIPK--NQHQYKVWYVVNSTYFE>Y<LMFVLILLNTICLAMQHYGQSCLFKIAMNI1253
CACNA1A----LTRHMPQNKQSFQYRMWQFVVSPPFE>Y<TIMAMIALNTIVLMMKFYGASVAYENALRV1600
CACNA1B----LTRYMPQNRQSFQYKTWTFVVSPPFE>Y<FIMAMIALNTVVLMMKFYDAPYEYELMLKC1506
CACNA1D----LRRYIPK--NPYQYKFWYVVNSSPFE>Y<MMFVLIMLNTLCLAMQHYEQSKMFNDAMDI1259
CACNA1E----LTRYMPQNRHTFQYRVWHFVVSPSFE>Y<TIMAMIALNTVVLMMKYYSAPCTYELALKY1512
CACNA1F----LRRYIPK--NPHQYRVWATVNSAAFE>Y<LMFLLILLNTVALAMQHYEQTAPFNYAMDI1224
CACNA1GASEAQCKPYYSDYSRFRLLVHHLCTSHYLD>L<FITGVIGLNVVTMAMEHYQQPQILDEALKI1645
CACNA1H-----RRPYYADYSPTRRSIHSLCTSHYLD>L<FITFIICVNVITMSMEHYNQPKSLDEALKY1651
CACNA1I-----RLPYYATYCHTRLLIHSMCTSHYLD>I<FITFIICLNVVTMSLEHYNQPTSLETALKY1521
CACNA1S----LRCYIPK--NPYQYQVWYIVTSSYFE>Y<LMFALIMLNTICLGMQHYNQSEQMNHISDI1152
SCN10A-----QKPIPRPLNKFQGFVFDIVTRQAFD>I<TIMVLICLNMITMMVETDDQSEEKTKILGK1510
SCN11A-----QKPIPRPLNKCQGLVFDIVTSQIFD>I<IIISLIILNMISMMAESYNQPKAMKSILDH1400
SCN1A-----QKPIPRPGNKFQGMVFDFVTRQVFD>I<SIMILICLNMVTMMVETDDQSEYVTTILSR1575
SCN2A-----QKPIPRPANKFQGMVFDFVTKQVFD>I<SIMILICLNMVTMMVETDDQSQEMTNILYW1565
SCN3A-----QKPIPRPANKFQGMVFDFVTRQVFD>I<SIMILICLNMVTMMVETDDQGKYMTLVLSR1560
SCN4A-----QKPIPRPQNKIQGMVYDLVTKQAFD>I<TIMILICLNMVTMMVETDNQSQLKVDILYN1387
SCN5A-----QKPIPRPLNKYQGFIFDIVTKQAFD>V<TIMFLICLNMVTMMVETDDQSPEKINILAK1562
SCN7A-----QRPVPRPLNKLQGFIFDVVTSQAFN>V<IVMVLICFQAIAMMIDTDVQSLQMSIALYW1285
SCN8A-----QKPIPRPLNKIQGIVFDFVTQQAFD>I<VIMMLICLNMVTMMVETDTQSKQMENILYW1556
SCN9A-----QKPIPRPGNKIQGCIFDLVTNQAFD>I<SIMVLICLNMVTMMVEKEGQSQHMTEVLYW1538
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1223 for CACNA1C.