Paralogue Annotation for CACNA1C residue 46

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 46
Reference Amino Acid: P - Proline
Protein Domain: N-terminus

Paralogue Variants mapped to CACNA1C residue 46

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN5A	R53Q	Long QT syndrome	Low	2	19716085

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	N--------A-NAAAGLA----PEH--IPT>P<GAALSWQAAIDAARQAKLMGSAGNATISTV	76
CACNA1A	-------------VVGSG-GGRGAG--GSR>Q<GGQ--------PGA-----------QRMYK	49
CACNA1B	---------------RGG-GAGGAG--GPG>P<GGLQ-------PGQ-----------RVLYK	46
CACNA1D	T--------R-LPLSGEG----PTSQPNSS>K<QTVLSWQAAIDAARQAKAAQTMSTSAPPPV	77
CACNA1E	--------------SD-Q-SRNRQG--TPV>P<A----------SGQ-----------AAAYK	40
CACNA1F	-------------GAGPG----PEWGLCPG>P<----P-------AV--------EGESSGAS	43
CACNA1G	F--------M--RLND------LSG--AGG>R<P-----------G-----------PGSA--	37
CACNA1H	E--------A--ERGS------ELG--VSP>S<E-----------S-----------P-AA--	56
CACNA1I	---------E--PGVTTE----QPG--P-->R<S--P-------PS-----------SPPG--	37
CACNA1S	------------------------------>-<------------------------------
SCN10A	QIAAKQGT-KKARE-KHRE-QKDQE--EKP>R<PQLDLKACNQLPKFYGELPAELIGEPLEDL	82
SCN11A	RIAIQ-KEKKKSK-----D-QTGEV--PQP>R<PQLDLKASRKLPKLYGDIPRELIGKPLEDL	81
SCN1A	RIAEE-KAKNPKPD----K-KDDDE--NGP>K<PNSDLEAGKNLPFIYGDIPPEMVSEPLEDL	80
SCN2A	RIAEE-KAKRPKQE----RKDEDDE--NGP>K<PNSDLEAGKSLPFIYGDIPPEMVSVPLEDL	81
SCN3A	RAAEE-KAKKPKKE----Q-DNDDE--NKP>K<PNSDLEAGKNLPFIYGDIPPEMVSEPLEDL	80
SCN4A	RAVEE-EARLQRNK----Q-MEIEE--PER>K<PRSDLEAGKNLPMIYGDPPPEVIGIPLEDL	83
SCN5A	RMAEK-QARGSTTLQESRE-GLPEE--EAP>R<PQLDLQASKKLPDLYGNPPQELIGEPLEDL	83
SCN7A	HIAKT--------H----N-EDHEE--EDL>K<PTPDLEVGKKLPFIYGNLSQGMVSEPLEDV	69
SCN8A	RIAES-KLKKPPKADGSHR-EDDED--SKP>K<PNSDLEAGKSLPFIYGDIPQGLVAVPLEDF	84
SCN9A	RIAER-KSKEPKEE----K-KDDDE--EAP>K<PSSDLEAGKQLPFIYGDIPPGMVSEPLEDL	78
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.P46L	c.137C>T	Putative Benign			SIFT: Polyphen: