Paralogue Annotation for CACNA1C residue 530

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 530
Reference Amino Acid: V - Valine
Protein Domain: TM domain 2

Paralogue Variants mapped to CACNA1C residue 530

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN9A	I739V	Febrile seizures ?	Medium	9	19763161, 22539570, 21698661, 22826602, 24820863
SCN10A	I671V	Brugada syndrome	Medium	9	25691538, 25691538

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	SKFSRYWRRWNRFCRRKCRAAVKSNVFYWL>V<IFLVFLNTLTIASEHYNQPNWLTEVQDTAN	560
CACNA1A	LENSTFFHKKERRMRFYIRRMVKTQAFYWT>V<LSLVALNTLCVAIVHYNQPEWLSDFLYYAE	523
CACNA1B	TESSSYFRRKEKMFRFFIRRMVKAQSFYWV>V<LCVVALNTLCVAMVHYNQPRRLTTTLYFAE	519
CACNA1D	SKLSRRWRRWNRFNRRRCRAAVKSVTFYWL>V<IVLVFLNTLTISSEHYNQPDWLTQIQDIAN	579
CACNA1E	VDGVSYFRHKERLLRISIRHMVKSQVFYWI>V<LSLVALNTACVAIVHHNQPQWLTHLLYYAE	512
CACNA1F	TRVCRRLRRANRVLRARCRRAVKSNACYWA>V<LLLVFLNTLTIASEHHGQPVWLTQIQEYAN	565
CACNA1G	DAEPSSVLAFWRLICDTFRKIVDSKYFGRG>I<MIAILVNTLSMGIEYHEQPEELTNALEISN	779
CACNA1H	GE-PGWMGRLWVTFSGKLRRIVDSKYFSRG>I<MMAILVNTLSMGVEYHEQPEELTNALEISN	829
CACNA1I	GA-VWLCGDVWRETRAKLRGIVDSKYFNRG>I<MMAILVNTVSMGIEHHEQPEELTNILEICN	676
CACNA1S	IQFIRHWRQWNRIFRWKCHDIVKSKVFYWL>V<ILIVALNTLSIASEHHNQPLWLTRLQDIAN	468
SCN10A	KYLIWDCCPMWVKLKTILFGLVTDPFAELT>I<TLCIVVNTIFMAMEHHGMSPTFEAMLQIGN	701
SCN11A	KYLVWNCCPQWLCVKKVLRTVMTDPFTELA>I<TICIIINTVFLAMEHHKMEASFEKMLNIGN	613
SCN1A	IFLIWDCSPYWLKVKHVVNLVVMDPFVDLA>I<TICIVLNTLFMAMEHYPMTDHFNNVLTVGN	804
SCN2A	MCLIWDCCKPWLKVKHLVNLVVMDPFVDLA>I<TICIVLNTLFMAMEHYPMTEQFSSVLSVGN	795
SCN3A	VFLIWDCCDAWLKVKHLVNLIVMDPFVDLA>I<TICIVLNTLFMAMEHYPMTEQFSSVLTVGN	796
SCN4A	KVLIWNCCAPWLKFKNIIHLIVMDPFVDLG>I<TICIVLNTLFMAMEHYPMTEHFDNVLTVGN	614
SCN5A	RYLIWECCPLWMSIKQGVKLVVMDPFTDLT>I<TMCIVLNTLFMALEHYNMTSEFEEMLQVGN	753
SCN7A	TFLIWNCSPCWLKLKEFVHRIIMAPFTDLF>L<IICIILNVCFLTLEHYPMSKQTNTLLNIGN	541
SCN8A	TFLIWECHPYWIKLKEIVNLIVMDPFVDLA>I<TICIVLNTLFMAMEHHPMTPQFEHVLAVGN	789
SCN9A	KFLIWNCSPYWIKFKKCIYFIVMDPFVDLA>I<TICIVLNTLFMAMEHHPMTEEFKNVLAIGN	769
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V530G	c.1589T>G	Putative Benign		rs200325545	SIFT: deleterious Polyphen: possibly damaging