Paralogue Annotation for CACNA1C residue 494

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 494
Reference Amino Acid: A - Alanine
Protein Domain: Interdomain Linker I-II

Paralogue Variants mapped to CACNA1C residue 494

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	W738L	Dravet syndrome	Medium	3	24168886
SCN1A	W738X	Dravet syndrome	Medium	3	22848613

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------------------->A<HR-ISKSKFSRYWRRWNRFCRRKCRAAVKS	523
CACNA1A	---SP--FARA------------------->S<IK-SAKLENSTFFHKKERRMRFYIRRMVKT	486
CACNA1B	---SP--FARA------------------->S<LK-SGKTESSSYFRRKEKMFRFFIRRMVKA	482
CACNA1D	---GPSGCRRW------------------->G<QA-ISKSKLSRRWRRWNRFNRRRCRAAVKS	542
CACNA1E	---TP--LARA------------------->S<IK-SAKVDGVSYFRHKERLLRISIRHMVKS	475
CACNA1F	---ALASCTRC------------------->L<NK-IMKTRVCRRLRRANRVLRARCRRAVKS	528
CACNA1G	DLRDPH-SRRQ---R--------------->-<--SLGPDAEPSSVLAFWRLICDTFRKIVDS	742
CACNA1H	DRWDP--TRPPRATDTPGPG---PGSPQRR>A<QQRAAPGE-PGWMGRLWVTFSGKLRRIVDS	792
CACNA1I	--DGD--GARS---SEDGASSELG--KEEE>E<EE-QADGA-VWLCGDVWRETRAKLRGIVDS	639
CACNA1S	------------------------------>L<NK-I--IQFIRHWRQWNRIFRWKCHDIVKS	431
SCN10A	---QK--CPPC------------------->L<TS-LSQKYLIWDCCPMWVKLKTILFGLVTD	664
SCN11A	---EP--CLPC------------------->G<EN-LASKYLVWNCCPQWLCVKKVLRTVMTD	576
SCN1A	---QK--CPPC------------------->W<YK-FSNIFLIWDCSPYWLKVKHVVNLVVMD	767
SCN2A	---QK--CPPC------------------->W<YK-FANMCLIWDCCKPWLKVKHLVNLVVMD	758
SCN3A	---QK--CPPC------------------->W<YR-FANVFLIWDCCDAWLKVKHLVNLIVMD	759
SCN4A	---QK--CPPW------------------->W<YK-CAHKVLIWNCCAPWLKFKNIIHLIVMD	577
SCN5A	---HK--CPPC------------------->W<NR-LAQRYLIWECCPLWMSIKQGVKLVVMD	716
SCN7A	---KI--CPLY------------------->W<YK-FAKTFLIWNCSPCWLKLKEFVHRIIMA	504
SCN8A	---RK--CPPC------------------->W<YK-FANTFLIWECHPYWIKLKEIVNLIVMD	752
SCN9A	---QK--CPPW------------------->W<YR-FAHKFLIWNCSPYWIKFKKCIYFIVMD	732
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Ala494Val	c.1481C>T	Unknown			SIFT: Polyphen: