Paralogue Annotation for CACNA1C residue 27

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 27
Reference Amino Acid: H - Histidine
Protein Domain: N-terminus

Paralogue Variants mapped to CACNA1C residue 27

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	A24T	Dravet syndrome	Low	3	24168886

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	IPEENHQGSNYGS------------PR-PA>H<ANMN--------A-NAAAGLA----PEH--	42
CACNA1A	----EM-PARYGG------------GGSGA>A<AGV-------------VVGSG-GGRGAG--	34
CACNA1B	----EL-GGRYGG------------PGGGE>R<A-----------------RGG-GAGGAG--	30
CACNA1D	MKKMQHQRQQQAD--------H--ANE-AN>Y<ARGT--------R-LPLSGEG----PTSQP	43
CACNA1E	----AV-VARPGS---------------GD>G<D----------------SD-Q-SRNRQG--	27
CACNA1F	---GG----KDTT------------PE-PS>P<AN--------------GAGPG----PEWGL	28
CACNA1G	-------------GAEESGQP-R-S----->-<---F--------M--RLND------LSG--	27
CACNA1H	--V-RV-P--LGAPPPGPAALVGASPESPG>A<PGRE--------A--ERGS------ELG--	47
CACNA1I	-------------SPPSSSAAAPAA----->-<------------E--PGVTTE----QPG--	27
CACNA1S	------------------------------>-<------------------------------
SCN10A	-------------GSLETNNFRRFTPESLV>E<IEKQIAAKQGT-KKARE-KHRE-QKDQE--	48
SCN11A	-------------IFPDERNFRPFTSDSLA>A<IEKRIAIQ-KEKKKSK-----D-QTGEV--	47
SCN1A	-------------VPPGPDSFNFFTRESLA>A<IERRIAEE-KAKNPKPD----K-KDDDE--	46
SCN2A	-------------VPPGPDSFRFFTRESLA>A<IEQRIAEE-KAKRPKQE----RKDEDDE--	47
SCN3A	-------------VPPGPESFRLFTRESLA>A<IEKRAAEE-KAKKPKKE----Q-DNDDE--	46
SCN4A	-------------VPLGPECLRPFTRESLA>A<IEQRAVEE-EARLQRNK----Q-MEIEE--	49
SCN5A	-------------LPRGTSSFRRFTRESLA>A<IEKRMAEK-QARGSTTLQESRE-GLPEE--	49
SCN7A	-------------ASPEPKGLVPFTKESFE>L<IKQHIAKT--------H----N-EDHEE--	35
SCN8A	-------------APPGPDSFKPFTPESLA>N<IERRIAES-KLKKPPKADGSHR-EDDED--	50
SCN9A	-------------PPPGPQSFVHFTKQSLA>L<IEQRIAER-KSKEPKEE----K-KDDDE--	44
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.H27Q	c.81T>G	Putative Benign			SIFT: Polyphen: