Paralogue Annotation for CACNA1C residue 57

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 57
Reference Amino Acid: D - Aspartate
Protein Domain: N-terminus

Paralogue Variants mapped to CACNA1C residue 57

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	L61F	Dravet syndrome	Medium	3	18930999
SCN1A	L61P	Dravet syndrome	Medium	3	26863999

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	NAAAGLA----PEH--IPTPGAALSWQAAI>D<AARQAKLMGSAGNATISTVSST-QRKRQQY	86
CACNA1A	--VVGSG-GGRGAG--GSRQGGQ------->-<PGA-----------QRMYKQSMAQRARTMA	60
CACNA1B	----RGG-GAGGAG--GPGPGGLQ------>-<PGQ-----------RVLYKQSIAQRARTMA	57
CACNA1D	LPLSGEG----PTSQPNSSKQTVLSWQAAI>D<AARQAKAAQTMSTSAPPPVGSLSQRKRQQY	88
CACNA1E	---SD-Q-SRNRQG--TPVPA--------->-<SGQ-----------AAAYKQTKAQRARTMA	51
CACNA1F	--GAGPG----PEWGLCPGP----P----->-<-AV--------EGESSGASGLGTPKRRNQH	54
CACNA1G	-RLND------LSG--AGGRP--------->-<-G-----------PGSA-------EKDPG-	42
CACNA1H	-ERGS------ELG--VSPSE--------->-<-S-----------P-AA-------ERGAEL	62
CACNA1I	-PGVTTE----QPG--P--RS--P------>-<PS-----------SPPG-------LEEPL-	42
CACNA1S	------------------------------>-<--------------------SSPQDEGLRK	13
SCN10A	ARE-KHRE-QKDQE--EKPRPQLDLKACNQ>L<PKFYGELPAELIGEPLEDLDPFYSTHR-TF	92
SCN11A	SK-----D-QTGEV--PQPRPQLDLKASRK>L<PKLYGDIPRELIGKPLEDLDPFYRNHK-TF	91
SCN1A	KPD----K-KDDDE--NGPKPNSDLEAGKN>L<PFIYGDIPPEMVSEPLEDLDPYYINKK-TF	90
SCN2A	KQE----RKDEDDE--NGPKPNSDLEAGKS>L<PFIYGDIPPEMVSVPLEDLDPYYINKK-TF	91
SCN3A	KKE----Q-DNDDE--NKPKPNSDLEAGKN>L<PFIYGDIPPEMVSEPLEDLDPYYINKK-TF	90
SCN4A	RNK----Q-MEIEE--PERKPRSDLEAGKN>L<PMIYGDPPPEVIGIPLEDLDPYYSNKK-TF	93
SCN5A	TTLQESRE-GLPEE--EAPRPQLDLQASKK>L<PDLYGNPPQELIGEPLEDLDPFYSTQK-TF	93
SCN7A	--H----N-EDHEE--EDLKPTPDLEVGKK>L<PFIYGNLSQGMVSEPLEDVDPYYYKKKNTF	80
SCN8A	PKADGSHR-EDDED--SKPKPNSDLEAGKS>L<PFIYGDIPQGLVAVPLEDFDPYYLTQK-TF	94
SCN9A	KEE----K-KDDDE--EAPKPSSDLEAGKQ>L<PFIYGDIPPGMVSEPLEDLDPYYADKK-TF	88
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D57N	c.169G>A	Putative Benign			SIFT: Polyphen: