Paralogue Annotation for CACNA1C residue 1216

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1216
Reference Amino Acid: V - Valine
Protein Domain: Interdomain Linker III-IV


Paralogue Variants mapped to CACNA1C residue 1216

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AV1525MBrugada syndromeHigh9 20129283, 23414114, 24136861
SCN1AV1538IDravet syndromeHigh9 18930999, 24066114

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.



CACNA1CKARP-------LRRYIPK--NQHQYKVWYV>V<NSTYFEYLMFVLILLNTICLAMQHYGQSCL1246
CACNA1ASAKP-------LTRHMPQNKQSFQYRMWQF>V<VSPPFEYTIMAMIALNTIVLMMKFYGASVA1593
CACNA1BSAKP-------LTRYMPQNRQSFQYKTWTF>V<VSPPFEYFIMAMIALNTVVLMMKFYDAPYE1499
CACNA1DKARP-------LRRYIPK--NPYQYKFWYV>V<NSSPFEYMMFVLIMLNTLCLAMQHYEQSKM1252
CACNA1ESAKP-------LTRYMPQNRHTFQYRVWHF>V<VSPSFEYTIMAMIALNTVVLMMKYYSAPCT1505
CACNA1FKAQP-------LRRYIPK--NPHQYRVWAT>V<NSAAFEYLMFLLILLNTVALAMQHYEQTAP1217
CACNA1GSGSSASAASEAQCKPYYSDYSRFRLLVHHL>C<TSHYLDLFITGVIGLNVVTMAMEHYQQPQI1638
CACNA1HEAQ---------RRPYYADYSPTRRSIHSL>C<TSHYLDLFITFIICVNVITMSMEHYNQPKS1644
CACNA1IKAQ---------RLPYYATYCHTRLLIHSM>C<TSHYLDIFITFIICLNVVTMSLEHYNQPTS1514
CACNA1SKARP-------LRCYIPK--NPYQYQVWYI>V<TSSYFEYLMFALIMLNTICLGMQHYNQSEQ1145
SCN10ASKKP--------QKPIPRPLNKFQGFVFDI>V<TRQAFDITIMVLICLNMITMMVETDDQSEE1503
SCN11ASKKP--------QKPIPRPLNKCQGLVFDI>V<TSQIFDIIIISLIILNMISMMAESYNQPKA1393
SCN1ASKKP--------QKPIPRPGNKFQGMVFDF>V<TRQVFDISIMILICLNMVTMMVETDDQSEY1568
SCN2ASKKP--------QKPIPRPANKFQGMVFDF>V<TKQVFDISIMILICLNMVTMMVETDDQSQE1558
SCN3ASKKP--------QKPIPRPANKFQGMVFDF>V<TRQVFDISIMILICLNMVTMMVETDDQGKY1553
SCN4ASKKP--------QKPIPRPQNKIQGMVYDL>V<TKQAFDITIMILICLNMVTMMVETDNQSQL1380
SCN5ASKKP--------QKPIPRPLNKYQGFIFDI>V<TKQAFDVTIMFLICLNMVTMMVETDDQSPE1555
SCN7AYEDS--------QRPVPRPLNKLQGFIFDV>V<TSQAFNVIVMVLICFQAIAMMIDTDVQSLQ1278
SCN8ASKKP--------QKPIPRPLNKIQGIVFDF>V<TQQAFDIVIMMLICLNMVTMMVETDTQSKQ1549
SCN9ASKKP--------QKPIPRPGNKIQGCIFDL>V<TNQAFDISIMVLICLNMVTMMVEKEGQSQH1531
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1216 for CACNA1C.