Paralogue Annotation for CACNA1C residue 1277

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1277
Reference Amino Acid: H - Histidine
Protein Domain: TM domain 4

Paralogue Variants mapped to CACNA1C residue 1277

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
CACNA1H	R1675Q	Epilepsy with auditory features	Medium	9	27066544

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	FKIAMNILNMLFTGLFTVEMILKLIAFKPK>H<YFCDAWNTFDALIVVGSIVDIAITEVNPAE	1307
CACNA1A	YENALRVFNIVFTSLFSLECVLKVMAFGIL>N<YFRDAWNIFDFVTVLGSITDILVTEFGNN-	1653
CACNA1B	YELMLKCLNIVFTSMFSMECVLKIIAFGVL>N<YFRDAWNVFDFVTVLGSITDILVTEIAET-	1559
CACNA1D	FNDAMDILNMVFTGVFTVEMVLKVIAFKPK>G<YFSDAWNTFDSLIVIGSIIDVALSEADPTE	1313
CACNA1E	YELALKYLNIAFTMVFSLECVLKVIAFGFL>N<YFRDTWNIFDFITVIGSITEIILTDSKLV-	1565
CACNA1F	FNYAMDILNMVFTGLFTIEMVLKIIAFKPK>H<YFTDAWNTFDALIVVGSIVDIAVTEVNNGG	1278
CACNA1G	LDEALKICNYIFTVIFVLESVFKLVAFGFR>R<FFQDRWNQLDLAIVLLSIMGITLEEIEVN-	1698
CACNA1H	LDEALKYCNYVFTIVFVFEAALKLVAFGFR>R<FFKDRWNQLDLAIVLLSLMGITLEEIEMS-	1704
CACNA1I	LETALKYCNYMFTTVFVLEAVLKLVAFGLR>R<FFKDRWNQLDLAIVLLSVMGITLEEIEIN-	1574
CACNA1S	MNHISDILNVAFTIIFTLEMILKLMAFKAR>G<YFGDPWNVFDFLIVIGSIIDVILSEIDTFL	1206
SCN10A	KTKILGKINQFFVAVFTGECVMKMFALR-Q>Y<YFTNGWNVFDFIVVVLSIASLIFSAILKS-	1562
SCN11A	MKSILDHLNWVFVVIFTLECLIKIFALR-Q>Y<YFTNGWNLFDCVVVLLSIVSTMISTLENQ-	1452
SCN1A	VTTILSRINLVFIVLFTGECVLKLISLR-H>Y<YFTIGWNIFDFVVVILSIVGMFLAELIE--	1626
SCN2A	MTNILYWINLVFIVLFTGECVLKLISLR-Y>Y<YFTIGWNIFDFVVVILSIVGMFLAELIE--	1616
SCN3A	MTLVLSRINLVFIVLFTGEFVLKLVSLR-H>Y<YFTIGWNIFDFVVVILSIVGMFLAEMIE--	1611
SCN4A	KVDILYNINMIFIIIFTGECVLKMLALR-Q>Y<YFTVGWNIFDFVVVILSIVGLALSDLIQ--	1438
SCN5A	KINILAKINLLFVAIFTGECIVKLAALR-H>Y<YFTNSWNIFDFVVVILSIVGTVLSDIIQ--	1613
SCN7A	MSIALYWINSIFVMLYTMECILKLIAFR-C>F<YFTIAWNIFDFMVVIFSITGLCLPMTVG--	1336
SCN8A	MENILYWINLVFVIFFTCECVLKMFALR-H>Y<YFTIGWNIFDFVVVILSIVGMFLADIIE--	1607
SCN9A	MTEVLYWINVVFIILFTGECVLKLISLR-H>Y<YFTVGWNIFDFVVVIISIVGMFLADLIE--	1589
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.H1277R	c.3830A>G	Putative Benign		rs1131659	SIFT: tolerated Polyphen: benign