Paralogue Annotation for CACNA1C residue 180

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 180
Reference Amino Acid: A - Alanine
Protein Domain: TM domain 1

Paralogue Variants mapped to CACNA1C residue 180

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN5A	A178G	Brugada syndrome	High	9	20129283, 24136861
SCN1A	A175V	Dravet syndrome	High	9	18930999
SCN1A	A175T	Myoclonic epilepsy of infancy	High	9	17347258

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	DSNATNSNLERVEYLFLI-IFTVEAFLKVI>A<YGLLFHPNAYLRNGWNLLDFIIVVVGLFSA	210
CACNA1A	DKTPMSERLDDTEPYFIG-IFCFEAGIKII>A<LGFAFHKGSYLRNGWNVMDFVVVLTGILAT	184
CACNA1B	DKTPMSERLDDTEPYFIG-IFCFEAGIKII>A<LGFVFHKGSYLRNGWNVMDFVVVLTGILAT	181
CACNA1D	DSNSTNHNLEKVEYAFLI-IFTVETFLKII>A<YGLLLHPNAYVRNGWNLLDFVIVIVGLFSV	212
CACNA1E	DKTPMSRRLEKTEPYFIG-IFCFEAGIKIV>A<LGFIFHKGSYLRNGWNVMDFIVVLSGILAT	175
CACNA1F	DSNTANHNLEQVEYVFLV-IFTVETVLKIV>A<YGLVLHPSAYIRNGWNLLDFIIVVVGLFSV	178
CACNA1G	ACDSQRCRILQAFDDFIFAFFAVEMVVKMV>A<LGI-FGKKCYLGDTWNRLDFFIVIAGMLEY	167
CACNA1H	ECGSERCNILEAFDAFIFAFFAVEMVIKMV>A<LGL-FGQKCYLGDTWNRLDFFIVVAGMMEY	186
CACNA1I	DCLSDRCKILQVFDDFIFIFFAMEMVLKMV>A<LGI-FGKKCYLGDTWNRLDFFIVMAGMVEY	165
CACNA1S	DNNSLNLGLEKLEYFFLI-VFSIEAAMKII>A<YGFLFHQDAYLRSGWNVLDFTIVFLGVFTV	137
SCN10A	D-LPE-----KIEYVFTV-IYTFEALIKIL>A<RGFCLNEFTYLRDPWNWLDFSVITLAYVGT	204
SCN11A	NSNSNNT--DIAECVFTG-IYIFEALIKIL>A<RGFILDEFSFLRDPWNWLDSIVIGIAIVSY	210
SCN1A	N-PPDWT--KNVEYTFTG-IYTFESLIKII>A<RGFCLEDFTFLRDPWNWLDFTVITFAYVTE	205
SCN2A	N-PPDWT--KNVEYTFTG-IYTFESLIKIL>A<RGFCLEDFTFLRDPWNWLDFTVITFAYVTE	206
SCN3A	N-PPDWT--KNVEYTFTG-IYTFESLIKIL>A<RGFCLEDFTFLRDPWNWLDFSVIVMAYVTE	205
SCN4A	D-PPPWS--KNVEYTFTG-IYTFESLIKIL>A<RGFCVDDFTFLRDPWNWLDFSVIMMAYLTE	208
SCN5A	D-PPPWT--KYVEYTFTA-IYTFESLVKIL>A<RGFCLHAFTFLRDPWNWLDFSVIIMAYVSE	208
SCN7A	N-LPKWR--PVLENTLLG-IYTFEILVKLF>A<RGVWAGSFSFLGDPWNWLDFSVTVFEVIIR	195
SCN8A	N-PPDWS--KNVEYTFTG-IYTFESLVKII>A<RGFCIDGFTFLRDPWNWLDFSVIMMAYITE	209
SCN9A	N-PPDWT--KNVEYTFTG-IYTFESLVKIL>A<RGFCVGEFTFLRDPWNWLDFVVIVFAYLTE	203
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Ala180Thr	c.538G>A	Unknown			SIFT: Polyphen: