Paralogue Annotation for CACNA1C residue 41

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 41
Reference Amino Acid: E - Glutamate
Protein Domain: N-terminus

Paralogue Variants mapped to CACNA1C residue 41

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN5A	E48K	Long QT syndrome	Medium	2	19716085
SCN1A	D45N	Epilepsy ?	Medium	2	21248271, 23708187

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	-PAHANMN--------A-NAAAGLA----P>E<H--IPTPGAALSWQAAIDAARQAKLMGSAG	69
CACNA1A	SGAAAGV-------------VVGSG-GGRG>A<G--GSRQGGQ--------PGA---------	44
CACNA1B	GGERA-----------------RGG-GAGG>A<G--GPGPGGLQ-------PGQ---------	41
CACNA1D	-ANYARGT--------R-LPLSGEG----P>T<SQPNSSKQTVLSWQAAIDAARQAKAAQTMS	70
CACNA1E	-GDGD----------------SD-Q-SRNR>Q<G--TPVPA----------SGQ---------	35
CACNA1F	-PSPAN--------------GAGPG----P>E<WGLCPGP----P-------AV--------E	36
CACNA1G	-------F--------M--RLND------L>S<G--AGGRP-----------G----------	33
CACNA1H	SPGAPGRE--------A--ERGS------E>L<G--VSPSE-----------S----------	53
CACNA1I	----------------E--PGVTTE----Q>P<G--P--RS--P-------PS----------	33
CACNA1S	------------------------------>-<------------------------------
SCN10A	SLVEIEKQIAAKQGT-KKARE-KHRE-QKD>Q<E--EKPRPQLDLKACNQLPKFYGELPAELI	75
SCN11A	SLAAIEKRIAIQ-KEKKKSK-----D-QTG>E<V--PQPRPQLDLKASRKLPKLYGDIPRELI	74
SCN1A	SLAAIERRIAEE-KAKNPKPD----K-KDD>D<E--NGPKPNSDLEAGKNLPFIYGDIPPEMV	73
SCN2A	SLAAIEQRIAEE-KAKRPKQE----RKDED>D<E--NGPKPNSDLEAGKSLPFIYGDIPPEMV	74
SCN3A	SLAAIEKRAAEE-KAKKPKKE----Q-DND>D<E--NKPKPNSDLEAGKNLPFIYGDIPPEMV	73
SCN4A	SLAAIEQRAVEE-EARLQRNK----Q-MEI>E<E--PERKPRSDLEAGKNLPMIYGDPPPEVI	76
SCN5A	SLAAIEKRMAEK-QARGSTTLQESRE-GLP>E<E--EAPRPQLDLQASKKLPDLYGNPPQELI	76
SCN7A	SFELIKQHIAKT--------H----N-EDH>E<E--EDLKPTPDLEVGKKLPFIYGNLSQGMV	62
SCN8A	SLANIERRIAES-KLKKPPKADGSHR-EDD>E<D--SKPKPNSDLEAGKSLPFIYGDIPQGLV	77
SCN9A	SLALIEQRIAER-KSKEPKEE----K-KDD>D<E--EAPKPSSDLEAGKQLPFIYGDIPPGMV	71
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

There are currently no reported variants at residue 41 for CACNA1C.