Paralogue Annotation for CACNA1C residue 1222

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1222
Reference Amino Acid: E - Glutamate
Protein Domain: Interdomain Linker III-IV


Paralogue Variants mapped to CACNA1C residue 1222

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AD1544ADravet syndromeMedium9 18930999
SCN1AD1544GDravet syndrome C ?Medium9 21248271

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--NQHQYKVWYVVNSTYF>E<YLMFVLILLNTICLAMQHYGQSCLFKIAMN1252
CACNA1A-----LTRHMPQNKQSFQYRMWQFVVSPPF>E<YTIMAMIALNTIVLMMKFYGASVAYENALR1599
CACNA1B-----LTRYMPQNRQSFQYKTWTFVVSPPF>E<YFIMAMIALNTVVLMMKFYDAPYEYELMLK1505
CACNA1D-----LRRYIPK--NPYQYKFWYVVNSSPF>E<YMMFVLIMLNTLCLAMQHYEQSKMFNDAMD1258
CACNA1E-----LTRYMPQNRHTFQYRVWHFVVSPSF>E<YTIMAMIALNTVVLMMKYYSAPCTYELALK1511
CACNA1F-----LRRYIPK--NPHQYRVWATVNSAAF>E<YLMFLLILLNTVALAMQHYEQTAPFNYAMD1223
CACNA1GAASEAQCKPYYSDYSRFRLLVHHLCTSHYL>D<LFITGVIGLNVVTMAMEHYQQPQILDEALK1644
CACNA1H------RRPYYADYSPTRRSIHSLCTSHYL>D<LFITFIICVNVITMSMEHYNQPKSLDEALK1650
CACNA1I------RLPYYATYCHTRLLIHSMCTSHYL>D<IFITFIICLNVVTMSLEHYNQPTSLETALK1520
CACNA1S-----LRCYIPK--NPYQYQVWYIVTSSYF>E<YLMFALIMLNTICLGMQHYNQSEQMNHISD1151
SCN10A------QKPIPRPLNKFQGFVFDIVTRQAF>D<ITIMVLICLNMITMMVETDDQSEEKTKILG1509
SCN11A------QKPIPRPLNKCQGLVFDIVTSQIF>D<IIIISLIILNMISMMAESYNQPKAMKSILD1399
SCN1A------QKPIPRPGNKFQGMVFDFVTRQVF>D<ISIMILICLNMVTMMVETDDQSEYVTTILS1574
SCN2A------QKPIPRPANKFQGMVFDFVTKQVF>D<ISIMILICLNMVTMMVETDDQSQEMTNILY1564
SCN3A------QKPIPRPANKFQGMVFDFVTRQVF>D<ISIMILICLNMVTMMVETDDQGKYMTLVLS1559
SCN4A------QKPIPRPQNKIQGMVYDLVTKQAF>D<ITIMILICLNMVTMMVETDNQSQLKVDILY1386
SCN5A------QKPIPRPLNKYQGFIFDIVTKQAF>D<VTIMFLICLNMVTMMVETDDQSPEKINILA1561
SCN7A------QRPVPRPLNKLQGFIFDVVTSQAF>N<VIVMVLICFQAIAMMIDTDVQSLQMSIALY1284
SCN8A------QKPIPRPLNKIQGIVFDFVTQQAF>D<IVIMMLICLNMVTMMVETDTQSKQMENILY1555
SCN9A------QKPIPRPGNKIQGCIFDLVTNQAF>D<ISIMVLICLNMVTMMVEKEGQSQHMTEVLY1537
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1222 for CACNA1C.