Paralogue Annotation for CACNA1C residue 943

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 943
Reference Amino Acid: I - Isoleucine
Protein Domain: TM domain 3

Paralogue Variants mapped to CACNA1C residue 943

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN5A	V1249D	Brugada syndrome	Medium	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	SISLAAEDPV-QHTSFRNHILFYFDIVFTT>I<FTIEIALKMTAYGAFLHKGSFCRNYFNILD	973
CACNA1A	SIALAAEDPV-QPNAPRNNVLRYFDYVFTG>V<FTFEMVIKMIDLGLVLHQGAYFRDLWNILD	1317
CACNA1B	SIALAAEDPV-RTDSPRNNALKYLDYIFTG>V<FTFEMVIKMIDLGLLLHPGAYFRDLWNILD	1224
CACNA1D	SAALAAEDPI-RSHSFRNTILGYFDYAFTA>I<FTVEILLKMTTFGAFLHKGAFCRNYFNLLD	979
CACNA1E	SIALAAEDPV-LTNSERNKVLRYFDYVFTG>V<FTFEMVIKMIDQGLILQDGSYFRDLWNILD	1226
CACNA1F	SVSLAAEDPI-RAHSFRNHILGYFDYAFTS>I<FTVEILLKMTVFGAFLHRGSFCRSWFNMLD	944
CACNA1G	CITIAMERPKIDPHSAERIFLTLSNYIFTA>V<FLAEMTVKVVALGWCFGEQAYLRSSWNVLD	1350
CACNA1H	CVTIALERPDIDPGSTERVFLSVSNYIFTA>I<FVAEMMVKVVALGLLSGEHAYLQSSWNLLD	1368
CACNA1I	CITIALERPQIEAGSTERIFLTVSNYIFTA>I<FVGEMTLKVVSLGLYFGEQAYLRSSWNVLD	1244
CACNA1S	SAALAAEDPI-RADSMRNQILKHFDIGFTS>V<FTVEIVLKMTTYGAFLHKGSFCRNYFNMLD	872
SCN10A	SGSLAFEDYYLDQKPTVKALLEYTDRVFTF>I<FVFEMLLKWVAYGF----KKYFTNAWCWLD	1222
SCN11A	SGALIFEDVHLENQPKIQELLNCTDIIFTH>I<FILEMVLKWVAFGF----GKYFTSAWCCLD	1126
SCN1A	SGALAFEDIYIDQRKTIKTMLEYADKVFTY>I<FILEMLLKWVAYGY----QTYFTNAWCWLD	1288
SCN2A	SGALAFEDIYIEQRKTIKTMLEYADKVFTY>I<FILEMLLKWVAYGF----QVYFTNAWCWLD	1278
SCN3A	SGALAFEDIYIEQRKTIKTMLEYADKVFTY>I<FILEMLLKWVAYGF----QTYFTNAWCWLD	1276
SCN4A	SGALAFEDIYIEQRRVIRTILEYADKVFTY>I<FIMEMLLKWVAYGF----KVYFTNAWCWLD	1101
SCN5A	SGALAFEDIYLEERKTIKVLLEYADKMFTY>V<FVLEMLLKWVAYGF----KKYFTNAWCWLD	1275
SCN7A	TGTLAFEDIYMDQRKTIKILLEYADMIFTY>I<FILEMLLKWMAYGF----KAYFSNGWYRLD	1004
SCN8A	SGALAFEDIYIEQRKTIRTILEYADKVFTY>I<FILEMLLKWTAYGF----VKFFTNAWCWLD	1268
SCN9A	SGALAFEDIYIERKKTIKIILEYADKIFTY>I<FILEMLLKWIAYGY----KTYFTNAWCWLD	1251
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Ile943Val	c.2827A>G	Unknown			SIFT: Polyphen: