Paralogue Annotation for CACNA1C residue 516

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 516
Reference Amino Acid: K - Lysine
Protein Domain: Interdomain Linker I-II

Paralogue Variants mapped to CACNA1C residue 516

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN5A	G709V	Long QT syndrome	Medium	8	20541041

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-ISKSKFSRYWRRWNRFCRR>K<CRAAVKSNVFYWLVIFLVFLNTLTIASEHY	546
CACNA1A	-------SIK-SAKLENSTFFHKKERRMRF>Y<IRRMVKTQAFYWTVLSLVALNTLCVAIVHY	509
CACNA1B	-------SLK-SGKTESSSYFRRKEKMFRF>F<IRRMVKAQSFYWVVLCVVALNTLCVAMVHY	505
CACNA1D	-------GQA-ISKSKLSRRWRRWNRFNRR>R<CRAAVKSVTFYWLVIVLVFLNTLTISSEHY	565
CACNA1E	-------SIK-SAKVDGVSYFRHKERLLRI>S<IRHMVKSQVFYWIVLSLVALNTACVAIVHH	498
CACNA1F	-------LNK-IMKTRVCRRLRRANRVLRA>R<CRRAVKSNACYWAVLLLVFLNTLTIASEHH	551
CACNA1G	----------SLGPDAEPSSVLAFWRLICD>T<FRKIVDSKYFGRGIMIAILVNTLSMGIEYH	765
CACNA1H	PGSPQRRAQQRAAPGE-PGWMGRLWVTFSG>K<LRRIVDSKYFSRGIMMAILVNTLSMGVEYH	815
CACNA1I	G--KEEEEEE-QADGA-VWLCGDVWRETRA>K<LRGIVDSKYFNRGIMMAILVNTVSMGIEHH	662
CACNA1S	-------LNK-I--IQFIRHWRQWNRIFRW>K<CHDIVKSKVFYWLVILIVALNTLSIASEHH	454
SCN10A	-------LTS-LSQKYLIWDCCPMWVKLKT>I<LFGLVTDPFAELTITLCIVVNTIFMAMEHH	687
SCN11A	-------GEN-LASKYLVWNCCPQWLCVKK>V<LRTVMTDPFTELAITICIIINTVFLAMEHH	599
SCN1A	-------WYK-FSNIFLIWDCSPYWLKVKH>V<VNLVVMDPFVDLAITICIVLNTLFMAMEHY	790
SCN2A	-------WYK-FANMCLIWDCCKPWLKVKH>L<VNLVVMDPFVDLAITICIVLNTLFMAMEHY	781
SCN3A	-------WYR-FANVFLIWDCCDAWLKVKH>L<VNLIVMDPFVDLAITICIVLNTLFMAMEHY	782
SCN4A	-------WYK-CAHKVLIWNCCAPWLKFKN>I<IHLIVMDPFVDLGITICIVLNTLFMAMEHY	600
SCN5A	-------WNR-LAQRYLIWECCPLWMSIKQ>G<VKLVVMDPFTDLTITMCIVLNTLFMALEHY	739
SCN7A	-------WYK-FAKTFLIWNCSPCWLKLKE>F<VHRIIMAPFTDLFLIICIILNVCFLTLEHY	527
SCN8A	-------WYK-FANTFLIWECHPYWIKLKE>I<VNLIVMDPFVDLAITICIVLNTLFMAMEHH	775
SCN9A	-------WYR-FAHKFLIWNCSPYWIKFKK>C<IYFIVMDPFVDLAITICIVLNTLFMAMEHH	755
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.K516N	c.1548G>C	Putative Benign		rs367644389	SIFT: tolerated Polyphen: possibly damaging