Paralogue Annotation for CACNA1C residue 1212

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1212
Reference Amino Acid: V - Valine
Protein Domain: Interdomain Linker III-IV


Paralogue Variants mapped to CACNA1C residue 1212

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AI1521KBrugada syndromeMedium9 20129283

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----KARP-------LRRYIPK--NQHQYK>V<WYVVNSTYFEYLMFVLILLNTICLAMQHYG1242
CACNA1A----SAKP-------LTRHMPQNKQSFQYR>M<WQFVVSPPFEYTIMAMIALNTIVLMMKFYG1589
CACNA1B----SAKP-------LTRYMPQNRQSFQYK>T<WTFVVSPPFEYFIMAMIALNTVVLMMKFYD1495
CACNA1D----KARP-------LRRYIPK--NPYQYK>F<WYVVNSSPFEYMMFVLIMLNTLCLAMQHYE1248
CACNA1E----SAKP-------LTRYMPQNRHTFQYR>V<WHFVVSPSFEYTIMAMIALNTVVLMMKYYS1501
CACNA1F----KAQP-------LRRYIPK--NPHQYR>V<WATVNSAAFEYLMFLLILLNTVALAMQHYE1213
CACNA1G---ASGSSASAASEAQCKPYYSDYSRFRLL>V<HHLCTSHYLDLFITGVIGLNVVTMAMEHYQ1634
CACNA1HFPSPEAQ---------RRPYYADYSPTRRS>I<HSLCTSHYLDLFITFIICVNVITMSMEHYN1640
CACNA1I----KAQ---------RLPYYATYCHTRLL>I<HSMCTSHYLDIFITFIICLNVVTMSLEHYN1510
CACNA1S----KARP-------LRCYIPK--NPYQYQ>V<WYIVTSSYFEYLMFALIMLNTICLGMQHYN1141
SCN10A--G-SKKP--------QKPIPRPLNKFQGF>V<FDIVTRQAFDITIMVLICLNMITMMVETDD1499
SCN11A--G-SKKP--------QKPIPRPLNKCQGL>V<FDIVTSQIFDIIIISLIILNMISMMAESYN1389
SCN1A--G-SKKP--------QKPIPRPGNKFQGM>V<FDFVTRQVFDISIMILICLNMVTMMVETDD1564
SCN2A--G-SKKP--------QKPIPRPANKFQGM>V<FDFVTKQVFDISIMILICLNMVTMMVETDD1554
SCN3A--G-SKKP--------QKPIPRPANKFQGM>V<FDFVTRQVFDISIMILICLNMVTMMVETDD1549
SCN4A--G-SKKP--------QKPIPRPQNKIQGM>V<YDLVTKQAFDITIMILICLNMVTMMVETDN1376
SCN5A--G-SKKP--------QKPIPRPLNKYQGF>I<FDIVTKQAFDVTIMFLICLNMVTMMVETDD1551
SCN7A--M-YEDS--------QRPVPRPLNKLQGF>I<FDVVTSQAFNVIVMVLICFQAIAMMIDTDV1274
SCN8A--G-SKKP--------QKPIPRPLNKIQGI>V<FDFVTQQAFDIVIMMLICLNMVTMMVETDT1545
SCN9A--G-SKKP--------QKPIPRPGNKIQGC>I<FDLVTNQAFDISIMVLICLNMVTMMVEKEG1527
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1212 for CACNA1C.