Paralogue Annotation for CACNA1C residue 59

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 59
Reference Amino Acid: A - Alanine
Protein Domain: N-terminus

Paralogue Variants mapped to CACNA1C residue 59

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	F63L	Dravet syndrome	Low	2	20729507

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	AAGLA----PEH--IPTPGAALSWQAAIDA>A<RQAKLMGSAGNATISTVSST-QRKRQQYG-	87
CACNA1A	VVGSG-GGRGAG--GSRQGGQ--------P>G<A-----------QRMYKQSMAQRARTMAL-	61
CACNA1B	--RGG-GAGGAG--GPGPGGLQ-------P>G<Q-----------RVLYKQSIAQRARTMAL-	58
CACNA1D	LSGEG----PTSQPNSSKQTVLSWQAAIDA>A<RQAKAAQTMSTSAPPPVGSLSQRKRQQYA-	89
CACNA1E	-SD-Q-SRNRQG--TPVPA----------S>G<Q-----------AAAYKQTKAQRARTMAL-	52
CACNA1F	GAGPG----PEWGLCPGP----P------->A<V--------EGESSGASGLGTPKRRNQHS-	55
CACNA1G	LND------LSG--AGGRP----------->G<-----------PGSA-------EKDPG-SA	44
CACNA1H	RGS------ELG--VSPSE----------->S<-----------P-AA-------ERGAELG-	63
CACNA1I	GVTTE----QPG--P--RS--P-------P>S<-----------SPPG-------LEEPL-D-	43
CACNA1S	------------------------------>-<------------------SSPQDEGLRKK-	14
SCN10A	E-KHRE-QKDQE--EKPRPQLDLKACNQLP>K<FYGELPAELIGEPLEDLDPFYSTHR-TFM-	93
SCN11A	-----D-QTGEV--PQPRPQLDLKASRKLP>K<LYGDIPRELIGKPLEDLDPFYRNHK-TFM-	92
SCN1A	D----K-KDDDE--NGPKPNSDLEAGKNLP>F<IYGDIPPEMVSEPLEDLDPYYINKK-TFI-	91
SCN2A	E----RKDEDDE--NGPKPNSDLEAGKSLP>F<IYGDIPPEMVSVPLEDLDPYYINKK-TFI-	92
SCN3A	E----Q-DNDDE--NKPKPNSDLEAGKNLP>F<IYGDIPPEMVSEPLEDLDPYYINKK-TFI-	91
SCN4A	K----Q-MEIEE--PERKPRSDLEAGKNLP>M<IYGDPPPEVIGIPLEDLDPYYSNKK-TFI-	94
SCN5A	LQESRE-GLPEE--EAPRPQLDLQASKKLP>D<LYGNPPQELIGEPLEDLDPFYSTQK-TFI-	94
SCN7A	H----N-EDHEE--EDLKPTPDLEVGKKLP>F<IYGNLSQGMVSEPLEDVDPYYYKKKNTFI-	81
SCN8A	ADGSHR-EDDED--SKPKPNSDLEAGKSLP>F<IYGDIPQGLVAVPLEDFDPYYLTQK-TFV-	95
SCN9A	E----K-KDDDE--EAPKPSSDLEAGKQLP>F<IYGDIPPGMVSEPLEDLDPYYADKK-TFI-	89
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Ala59Ser	c.175G>T	Unknown			SIFT: Polyphen: