Paralogue Annotation for CACNA1C residue 511

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 511
Reference Amino Acid: R - Arginine
Protein Domain: Interdomain Linker I-II

Paralogue Variants mapped to CACNA1C residue 511

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN9A	I720K	Small fibre neuropathy	Medium	6	21698661, 22035805

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-ISKSKFSRYWRRWN>R<FCRRKCRAAVKSNVFYWLVIFLVFLNTLTI	541
CACNA1A	------------SIK-SAKLENSTFFHKKE>R<RMRFYIRRMVKTQAFYWTVLSLVALNTLCV	504
CACNA1B	------------SLK-SGKTESSSYFRRKE>K<MFRFFIRRMVKAQSFYWVVLCVVALNTLCV	500
CACNA1D	------------GQA-ISKSKLSRRWRRWN>R<FNRRRCRAAVKSVTFYWLVIVLVFLNTLTI	560
CACNA1E	------------SIK-SAKVDGVSYFRHKE>R<LLRISIRHMVKSQVFYWIVLSLVALNTACV	493
CACNA1F	------------LNK-IMKTRVCRRLRRAN>R<VLRARCRRAVKSNACYWAVLLLVFLNTLTI	546
CACNA1G	---------------SLGPDAEPSSVLAFW>R<LICDTFRKIVDSKYFGRGIMIAILVNTLSM	760
CACNA1H	PG---PGSPQRRAQQRAAPGE-PGWMGRLW>V<TFSGKLRRIVDSKYFSRGIMMAILVNTLSM	810
CACNA1I	ASSELG--KEEEEEE-QADGA-VWLCGDVW>R<ETRAKLRGIVDSKYFNRGIMMAILVNTVSM	657
CACNA1S	------------LNK-I--IQFIRHWRQWN>R<IFRWKCHDIVKSKVFYWLVILIVALNTLSI	449
SCN10A	------------LTS-LSQKYLIWDCCPMW>V<KLKTILFGLVTDPFAELTITLCIVVNTIFM	682
SCN11A	------------GEN-LASKYLVWNCCPQW>L<CVKKVLRTVMTDPFTELAITICIIINTVFL	594
SCN1A	------------WYK-FSNIFLIWDCSPYW>L<KVKHVVNLVVMDPFVDLAITICIVLNTLFM	785
SCN2A	------------WYK-FANMCLIWDCCKPW>L<KVKHLVNLVVMDPFVDLAITICIVLNTLFM	776
SCN3A	------------WYR-FANVFLIWDCCDAW>L<KVKHLVNLIVMDPFVDLAITICIVLNTLFM	777
SCN4A	------------WYK-CAHKVLIWNCCAPW>L<KFKNIIHLIVMDPFVDLGITICIVLNTLFM	595
SCN5A	------------WNR-LAQRYLIWECCPLW>M<SIKQGVKLVVMDPFTDLTITMCIVLNTLFM	734
SCN7A	------------WYK-FAKTFLIWNCSPCW>L<KLKEFVHRIIMAPFTDLFLIICIILNVCFL	522
SCN8A	------------WYK-FANTFLIWECHPYW>I<KLKEIVNLIVMDPFVDLAITICIVLNTLFM	770
SCN9A	------------WYR-FAHKFLIWNCSPYW>I<KFKKCIYFIVMDPFVDLAITICIVLNTLFM	750
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Arg511Gln	c.1532G>A	Unknown			SIFT: Polyphen: