Paralogue Annotation for CACNA1C residue 510

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 510
Reference Amino Acid: N - Asparagine
Protein Domain: Interdomain Linker I-II

Paralogue Variants mapped to CACNA1C residue 510

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	W754L	Dravet syndrome	Medium	6	26096185

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	-------------AHR-ISKSKFSRYWRRW>N<RFCRRKCRAAVKSNVFYWLVIFLVFLNTLT	540
CACNA1A	-------------SIK-SAKLENSTFFHKK>E<RRMRFYIRRMVKTQAFYWTVLSLVALNTLC	503
CACNA1B	-------------SLK-SGKTESSSYFRRK>E<KMFRFFIRRMVKAQSFYWVVLCVVALNTLC	499
CACNA1D	-------------GQA-ISKSKLSRRWRRW>N<RFNRRRCRAAVKSVTFYWLVIVLVFLNTLT	559
CACNA1E	-------------SIK-SAKVDGVSYFRHK>E<RLLRISIRHMVKSQVFYWIVLSLVALNTAC	492
CACNA1F	-------------LNK-IMKTRVCRRLRRA>N<RVLRARCRRAVKSNACYWAVLLLVFLNTLT	545
CACNA1G	----------------SLGPDAEPSSVLAF>W<RLICDTFRKIVDSKYFGRGIMIAILVNTLS	759
CACNA1H	GPG---PGSPQRRAQQRAAPGE-PGWMGRL>W<VTFSGKLRRIVDSKYFSRGIMMAILVNTLS	809
CACNA1I	GASSELG--KEEEEEE-QADGA-VWLCGDV>W<RETRAKLRGIVDSKYFNRGIMMAILVNTVS	656
CACNA1S	-------------LNK-I--IQFIRHWRQW>N<RIFRWKCHDIVKSKVFYWLVILIVALNTLS	448
SCN10A	-------------LTS-LSQKYLIWDCCPM>W<VKLKTILFGLVTDPFAELTITLCIVVNTIF	681
SCN11A	-------------GEN-LASKYLVWNCCPQ>W<LCVKKVLRTVMTDPFTELAITICIIINTVF	593
SCN1A	-------------WYK-FSNIFLIWDCSPY>W<LKVKHVVNLVVMDPFVDLAITICIVLNTLF	784
SCN2A	-------------WYK-FANMCLIWDCCKP>W<LKVKHLVNLVVMDPFVDLAITICIVLNTLF	775
SCN3A	-------------WYR-FANVFLIWDCCDA>W<LKVKHLVNLIVMDPFVDLAITICIVLNTLF	776
SCN4A	-------------WYK-CAHKVLIWNCCAP>W<LKFKNIIHLIVMDPFVDLGITICIVLNTLF	594
SCN5A	-------------WNR-LAQRYLIWECCPL>W<MSIKQGVKLVVMDPFTDLTITMCIVLNTLF	733
SCN7A	-------------WYK-FAKTFLIWNCSPC>W<LKLKEFVHRIIMAPFTDLFLIICIILNVCF	521
SCN8A	-------------WYK-FANTFLIWECHPY>W<IKLKEIVNLIVMDPFVDLAITICIVLNTLF	769
SCN9A	-------------WYR-FAHKFLIWNCSPY>W<IKFKKCIYFIVMDPFVDLAITICIVLNTLF	749
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

There are currently no reported variants at residue 510 for CACNA1C.