Paralogue Annotation for CACNA1C residue 986

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 986
Reference Amino Acid: I - Isoleucine
Protein Domain: TM domain 3

Paralogue Variants mapped to CACNA1C residue 986

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN9A	L1267V	Dravet syndrome ?	Medium	7	19763161, 23895530

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	FCRNYFNILDLLVVSVSLISF----G---->I<QSSAINVVKILRVLRVLRPLRAINRAKGLK	1016
CACNA1A	YFRDLWNILDFIVVSGALVAFAFTGN---->S<KGKDINTIKSLRVLRVLRPLKTIKRLPKLK	1364
CACNA1B	YFRDLWNILDFIVVSGALVAFAFS-G---->S<KGKDINTIKSLRVLRVLRPLKTIKRLPKLK	1270
CACNA1D	FCRNYFNLLDMLVVGVSLVSF----G---->I<QSSAISVVKILRVLRVLRPLRAINRAKGLK	1022
CACNA1E	YFRDLWNILDFVVVVGALVAFALANA-LGT>N<KGRDIKTIKSLRVLRVLRPLKTIKRLPKLK	1276
CACNA1F	FCRSWFNMLDLLVVSVSLISF----G---->I<HSSAISVVKILRVLRVLRPLRAINRAKGLK	987
CACNA1G	YLRSSWNVLDGLLVLISVIDILVS-MVSD->S<GTKILGMLRVLRLLRTLRPLRVISRAQGLK	1399
CACNA1H	YLQSSWNLLDGLLVLVSLVDIVVA-MASA->G<GAKILGVLRVLRLLRTLRPLRVISRAPGLK	1417
CACNA1I	YLRSSWNVLDGFLVFVSIIDIVVS-LASA->G<GAKILGVLRVLRLLRTLRPLRVISRAPGLK	1293
CACNA1S	FCRNYFNMLDLLVVAVSLISM----G---->L<ESSAISVVKILRVLRVLRPLRAINRAKGLK	915
SCN10A	YFTNAWCWLDFLIVNISLISLTAK-I---->L<EYSEVAPIKALRTLRALRPLRALSRFEGMR	1268
SCN11A	YFTSAWCCLDFIIVIVSVTTLI-------->-<N---LMELKSFRTLRALRPLRALSQFEGMK	1165
SCN1A	YFTNAWCWLDFLIVDVSLVSLTAN-A---->L<GYSELGAIKSLRTLRALRPLRALSRFEGMR	1334
SCN2A	YFTNAWCWLDFLIVDVSLVSLTAN-A---->L<GYSELGAIKSLRTLRALRPLRALSRFEGMR	1324
SCN3A	YFTNAWCWLDFLIVDVSLVSLVAN-A---->L<GYSELGAIKSLRTLRALRPLRALSRFEGMR	1322
SCN4A	YFTNAWCWLDFLIVDVSIISLVAN-W---->L<GYSELGPIKSLRTLRALRPLRALSRFEGMR	1147
SCN5A	YFTNAWCWLDFLIVDVSLVSLVAN-T---->L<GFAEMGPIKSLRTLRALRPLRALSRFEGMR	1321
SCN7A	YFSNGWYRLDFVVVIVFCLSLIGK-T---->R<E--E---LKPLISMKFLRPLRVLSQFERMK	1045
SCN8A	FFTNAWCWLDFLIVAVSLVSLIAN-A---->L<GYSELGAIKSLRTLRALRPLRALSRFEGMR	1314
SCN9A	YFTNAWCWLDFLIVDVSLVTLVAN-T---->L<GYSDLGPIKSLRTLRALRPLRALSRFEGMR	1297
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I986V	c.2956A>G	Putative Benign		rs368820520	SIFT: deleterious Polyphen: possibly damaging