Paralogue Annotation for CACNA1C residue 372

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 372
Reference Amino Acid: V - Valine
Protein Domain: TM domain 1

Paralogue Variants mapped to CACNA1C residue 372

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	T391P	Dravet syndrome	Medium	9	21844054

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	GITNFDNFAFAMLTVFQCITMEGWTDVLYW>V<NDAVGRDWPWIYFVTLIIIGSFFVLNLVLG	402
CACNA1A	GITQFDNILFAVLTVFQCITMEGWTDLLYN>S<NDASGNTWNWLYFIPLIIIGSFFMLNLVLG	357
CACNA1B	GITNFDNILFAILTVFQCITMEGWTDILYN>T<NDAAGNTWNWLYFIPLIIIGSFFMLNLVLG	353
CACNA1D	GITNFDNFAFAMLTVFQCITMEGWTDVLYW>V<NDAIGWEWPWVYFVSLIILGSFFVLNLVLG	403
CACNA1E	GITQFDNILFAVLTVFQCITMEGWTTVLYN>T<NDALGATWNWLYFIPLIIIGSFFVLNLVLG	348
CACNA1F	GITNFDNFFFAMLTVFQCVTMEGWTDVLYW>M<QDAMGYELPWVYFVSLVIFGSFFVLNLVLG	369
CACNA1G	GAINFDNIGYAWIAIFQVITLEGWVDIMYF>V<MDAHSF-YNFIYFILLIIVGSFFMINLCLV	392
CACNA1H	GAINFDNIGYAWIAIFQVITLEGWVDIMYY>V<MDAHSF-YNFIYFILLIIVGSFFMINLCLV	416
CACNA1I	GAINFDNIGYAWIVIFQVITLEGWVEIMYY>V<MDAHSF-YNFIYFILLIIVGSFFMINLCLV	395
CACNA1S	GITHFDNFGFSMLTVYQCITMEGWTDVLYW>V<NDAIGNEWPWIYFVTLILLGSFFILNLVLG	331
SCN10A	NYTSFDSFAWAFLSLFRLMTQDSWERLYQQ>T<LRTSGKIY-MIFFVLVIFLGSFYLVNLILA	394
SCN11A	NYTNFDNFGWSFLAMFRLMTQDSWEKLYQQ>T<LRTTGLYS-VFFFIVVIFLGSFYLINLTLA	397
SCN1A	GYTSFDTFSWAFLSLFRLMTQDFWENLYQL>T<LRAAGKTY-MIFFVLVIFLGSFYLINLILA	420
SCN2A	GYTSFDTFSWAFLSLFRLMTQDFWENLYQL>T<LRAAGKTY-MIFFVLVIFLGSFYLINLILA	422
SCN3A	GYTSFDTFSWAFLSLFRLMTQDYWENLYQL>T<LRAAGKTY-MIFFVLVIFLGSFYLVNLILA	421
SCN4A	GYTSYDTFSWAFLALFRLMTQDYWENLFQL>T<LRAAGKTY-MIFFVVIIFLGSFYLINLILA	444
SCN5A	GYTSFDSFAWAFLALFRLMTQDCWERLYQQ>T<LRSAGKIY-MIFFMLVIFLGSFYLVNLILA	410
SCN7A	GFTNFDSFGWALFALFRLMAQDYPEVLYHQ>I<LYASGKVY-MIFFVVVSFLFSFYMASLFLG	391
SCN8A	GYTSFDTFSWAFLALFRLMTQDYWENLYQL>T<LRAAGKTY-MIFFVLVIFVGSFYLVNLILA	408
SCN9A	GYTSFDTFSWAFLALFRLMTQDYWENLYQQ>T<LRAAGKTY-MIFFVVVIFLGSFYLINLILA	399
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V372I	c.1114G>A	Putative Benign		rs1131648	SIFT: tolerated Polyphen: benign