Paralogue Annotation for CACNA1C residue 396

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 396
Reference Amino Acid: V - Valine
Protein Domain: TM domain 1

Paralogue Variants mapped to CACNA1C residue 396

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN5A	L404Q	Long QT syndrome	Medium	9	15840476
SCN10A	L388P	Brugada syndrome	Medium	9	24998131

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	TDVLYWVNDAVGRDWPWIYFVTLIIIGSFF>V<LNLVLGVLSGEFSKEREKAKARGDFQKLRE	426
CACNA1A	TDLLYNSNDASGNTWNWLYFIPLIIIGSFF>M<LNLVLGVLSGEFAKERERVENRRAFLKLRR	381
CACNA1B	TDILYNTNDAAGNTWNWLYFIPLIIIGSFF>M<LNLVLGVLSGEFAKERERVENRRAFLKLRR	377
CACNA1D	TDVLYWVNDAIGWEWPWVYFVSLIILGSFF>V<LNLVLGVLSGEFSKEREKAKARGDFQKLRE	427
CACNA1E	TTVLYNTNDALGATWNWLYFIPLIIIGSFF>V<LNLVLGVLSGEFAKERERVENRRAFMKLRR	372
CACNA1F	TDVLYWMQDAMGYELPWVYFVSLVIFGSFF>V<LNLVLGVLSGEFSKEREKAKARGDFQKQRE	393
CACNA1G	VDIMYFVMDAHSF-YNFIYFILLIIVGSFF>M<INLCLVVIATQFSETKQRESQLMREQRVRF	416
CACNA1H	VDIMYYVMDAHSF-YNFIYFILLIIVGSFF>M<INLCLVVIATQFSETKQRESQLMREQRARH	440
CACNA1I	VEIMYYVMDAHSF-YNFIYFILLIIVGSFF>M<INLCLVVIATQFSETKQREHRLMLEQRQRY	419
CACNA1S	TDVLYWVNDAIGNEWPWIYFVTLILLGSFF>I<LNLVLGVLSGEFTKEREKAKSRGTFQKLRE	355
SCN10A	ERLYQQTLRTSGKIY-MIFFVLVIFLGSFY>L<VNLILAVVTMAYEEQNQATTDEIEAK-EKK	417
SCN11A	EKLYQQTLRTTGLYS-VFFFIVVIFLGSFY>L<INLTLAVVTMAYEEQNKNVAAEIEAK-EKM	420
SCN1A	ENLYQLTLRAAGKTY-MIFFVLVIFLGSFY>L<INLILAVVAMAYEEQNQATLEEAEQK-EAE	443
SCN2A	ENLYQLTLRAAGKTY-MIFFVLVIFLGSFY>L<INLILAVVAMAYEEQNQATLEEAEQK-EAE	445
SCN3A	ENLYQLTLRAAGKTY-MIFFVLVIFLGSFY>L<VNLILAVVAMAYEEQNQATLEEAEQK-EAE	444
SCN4A	ENLFQLTLRAAGKTY-MIFFVVIIFLGSFY>L<INLILAVVAMAYAEQNEATLAEDKEK-EEE	467
SCN5A	ERLYQQTLRSAGKIY-MIFFMLVIFLGSFY>L<VNLILAVVAMAYEEQNQATIAETEEK-EKR	433
SCN7A	EVLYHQILYASGKVY-MIFFVVVSFLFSFY>M<ASLFLGILAMAYEEEKQRVGEISKKI-EPK	414
SCN8A	ENLYQLTLRAAGKTY-MIFFVLVIFVGSFY>L<VNLILAVVAMAYEEQNQATLEEAEQK-EAE	431
SCN9A	ENLYQQTLRAAGKTY-MIFFVVVIFLGSFY>L<INLILAVVAMAYEEQNQANIEEAKQK-ELE	422
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V396I	c.1186G>A	Putative Benign			SIFT: Polyphen: