Paralogue Annotation for CACNA1C residue 1296

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1296
Reference Amino Acid: V - Valine
Protein Domain: TM domain 4

Paralogue Variants mapped to CACNA1C residue 1296

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN5A	V1604M	Brugada syndrome	High	9	20129283

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	MILKLIAFKPKHYFCDAWNTFDALIVVGSI>V<DIAITEVNPAE----HTQ----CSPSMNAE	1318
CACNA1A	CVLKVMAFGILNYFRDAWNIFDFVTVLGSI>T<DILVTEFGNN--------------------	1653
CACNA1B	CVLKIIAFGVLNYFRDAWNVFDFVTVLGSI>T<DILVTEIAET--------------------	1559
CACNA1D	MVLKVIAFKPKGYFSDAWNTFDSLIVIGSI>I<DVALSEADPTE----SENVPVPTATPGNSE	1328
CACNA1E	CVLKVIAFGFLNYFRDTWNIFDFITVIGSI>T<EIILTDSKLV--------------------	1565
CACNA1F	MVLKIIAFKPKHYFTDAWNTFDALIVVGSI>V<DIAVTEVNNGG----HLG----E----SSE	1285
CACNA1G	SVFKLVAFGFRRFFQDRWNQLDLAIVLLSI>M<GITLEEIEVN--------------------	1698
CACNA1H	AALKLVAFGFRRFFKDRWNQLDLAIVLLSL>M<GITLEEIEMS--------------------	1704
CACNA1I	AVLKLVAFGLRRFFKDRWNQLDLAIVLLSV>M<GITLEEIEIN--------------------	1574
CACNA1S	MILKLMAFKARGYFGDPWNVFDFLIVIGSI>I<DVILSEIDTFLASSGGLYCLGGGCGNVDPD	1225
SCN10A	CVMKMFALR-QYYFTNGWNVFDFIVVVLSI>A<SLIFSAILKS--------------------	1562
SCN11A	CLIKIFALR-QYYFTNGWNLFDCVVVLLSI>V<STMISTLENQ--------------------	1452
SCN1A	CVLKLISLR-HYYFTIGWNIFDFVVVILSI>V<GMFLAELIE---------------------	1626
SCN2A	CVLKLISLR-YYYFTIGWNIFDFVVVILSI>V<GMFLAELIE---------------------	1616
SCN3A	FVLKLVSLR-HYYFTIGWNIFDFVVVILSI>V<GMFLAEMIE---------------------	1611
SCN4A	CVLKMLALR-QYYFTVGWNIFDFVVVILSI>V<GLALSDLIQ---------------------	1438
SCN5A	CIVKLAALR-HYYFTNSWNIFDFVVVILSI>V<GTVLSDIIQ---------------------	1613
SCN7A	CI