Paralogue Annotation for CACNA1C residue 45

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 45
Reference Amino Acid: T - Threonine
Protein Domain: N-terminus

Paralogue Variants mapped to CACNA1C residue 45

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN5A	P52S	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	MN--------A-NAAAGLA----PEH--IP>T<PGAALSWQAAIDAARQAKLMGSAGNATIST	75
CACNA1A	V-------------VVGSG-GGRGAG--GS>R<QGGQ--------PGA-----------QRMY	48
CACNA1B	----------------RGG-GAGGAG--GP>G<PGGLQ-------PGQ-----------RVLY	45
CACNA1D	GT--------R-LPLSGEG----PTSQPNS>S<KQTVLSWQAAIDAARQAKAAQTMSTSAPPP	76
CACNA1E	---------------SD-Q-SRNRQG--TP>V<PA----------SGQ-----------AAAY	39
CACNA1F	--------------GAGPG----PEWGLCP>G<P----P-------AV--------EGESSGA	42
CACNA1G	-F--------M--RLND------LSG--AG>G<RP-----------G-----------PGSA-	37
CACNA1H	RE--------A--ERGS------ELG--VS>P<SE-----------S-----------P-AA-	56
CACNA1I	----------E--PGVTTE----QPG--P->-<RS--P-------PS-----------SPPG-	37
CACNA1S	------------------------------>-<------------------------------
SCN10A	KQIAAKQGT-KKARE-KHRE-QKDQE--EK>P<RPQLDLKACNQLPKFYGELPAELIGEPLED	81
SCN11A	KRIAIQ-KEKKKSK-----D-QTGEV--PQ>P<RPQLDLKASRKLPKLYGDIPRELIGKPLED	80
SCN1A	RRIAEE-KAKNPKPD----K-KDDDE--NG>P<KPNSDLEAGKNLPFIYGDIPPEMVSEPLED	79
SCN2A	QRIAEE-KAKRPKQE----RKDEDDE--NG>P<KPNSDLEAGKSLPFIYGDIPPEMVSVPLED	80
SCN3A	KRAAEE-KAKKPKKE----Q-DNDDE--NK>P<KPNSDLEAGKNLPFIYGDIPPEMVSEPLED	79
SCN4A	QRAVEE-EARLQRNK----Q-MEIEE--PE>R<KPRSDLEAGKNLPMIYGDPPPEVIGIPLED	82
SCN5A	KRMAEK-QARGSTTLQESRE-GLPEE--EA>P<RPQLDLQASKKLPDLYGNPPQELIGEPLED	82
SCN7A	QHIAKT--------H----N-EDHEE--ED>L<KPTPDLEVGKKLPFIYGNLSQGMVSEPLED	68
SCN8A	RRIAES-KLKKPPKADGSHR-EDDED--SK>P<KPNSDLEAGKSLPFIYGDIPQGLVAVPLED	83
SCN9A	QRIAER-KSKEPKEE----K-KDDDE--EA>P<KPSSDLEAGKQLPFIYGDIPPGMVSEPLED	77
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T45S	c.134C>G	Putative Benign			SIFT: Polyphen: