Paralogue Annotation for CACNA1C residue 498

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 498
Reference Amino Acid: S - Serine
Protein Domain: Interdomain Linker I-II

Paralogue Variants mapped to CACNA1C residue 498

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN5A	A691T	Long QT syndrome	Medium	4	15176425

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	---ARL-------------------AHR-I>S<KSKFSRYWRRWNRFCRRKCRAAVKSNVFYW	528
CACNA1A	--FARA-------------------SIK-S>A<KLENSTFFHKKERRMRFYIRRMVKTQAFYW	491
CACNA1B	--FARA-------------------SLK-S>G<KTESSSYFRRKEKMFRFFIRRMVKAQSFYW	487
CACNA1D	SGCRRW-------------------GQA-I>S<KSKLSRRWRRWNRFNRRRCRAAVKSVTFYW	547
CACNA1E	--LARA-------------------SIK-S>A<KVDGVSYFRHKERLLRISIRHMVKSQVFYW	480
CACNA1F	ASCTRC-------------------LNK-I>M<KTRVCRRLRRANRVLRARCRRAVKSNACYW	533
CACNA1G	H-SRRQ---R------------------SL>G<PDAEPSSVLAFWRLICDTFRKIVDSKYFGR	747
CACNA1H	--TRPPRATDTPGPG---PGSPQRRAQQRA>A<PGE-PGWMGRLWVTFSGKLRRIVDSKYFSR	797
CACNA1I	--GARS---SEDGASSELG--KEEEEEE-Q>A<DGA-VWLCGDVWRETRAKLRGIVDSKYFNR	644
CACNA1S	-------------------------LNK-I>-<-IQFIRHWRQWNRIFRWKCHDIVKSKVFYW	436
SCN10A	--CPPC-------------------LTS-L>S<QKYLIWDCCPMWVKLKTILFGLVTDPFAEL	669
SCN11A	--CLPC-------------------GEN-L>A<SKYLVWNCCPQWLCVKKVLRTVMTDPFTEL	581
SCN1A	--CPPC-------------------WYK-F>S<NIFLIWDCSPYWLKVKHVVNLVVMDPFVDL	772
SCN2A	--CPPC-------------------WYK-F>A<NMCLIWDCCKPWLKVKHLVNLVVMDPFVDL	763
SCN3A	--CPPC-------------------WYR-F>A<NVFLIWDCCDAWLKVKHLVNLIVMDPFVDL	764
SCN4A	--CPPW-------------------WYK-C>A<HKVLIWNCCAPWLKFKNIIHLIVMDPFVDL	582
SCN5A	--CPPC-------------------WNR-L>A<QRYLIWECCPLWMSIKQGVKLVVMDPFTDL	721
SCN7A	--CPLY-------------------WYK-F>A<KTFLIWNCSPCWLKLKEFVHRIIMAPFTDL	509
SCN8A	--CPPC-------------------WYK-F>A<NTFLIWECHPYWIKLKEIVNLIVMDPFVDL	757
SCN9A	--CPPW-------------------WYR-F>A<HKFLIWNCSPYWIKFKKCIYFIVMDPFVDL	737
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

There are currently no reported variants at residue 498 for CACNA1C.