Paralogue Annotation for CACNA1C residue 30

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 30
Reference Amino Acid: M - Methionine
Protein Domain: N-terminus

Paralogue Variants mapped to CACNA1C residue 30

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	R27T	Generalized epilepsy with febrile seizures plus	Low	3	20729507, 21719429, 26990884

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	ENHQGSNYGS------------PR-PAHAN>M<N--------A-NAAAGLA----PEH--IPT	45
CACNA1A	-EM-PARYGG------------GGSGAAAG>V<-------------VVGSG-GGRGAG--GSR	37
CACNA1B	-EL-GGRYGG------------PGGGERA->-<---------------RGG-GAGGAG--GPG	33
CACNA1D	MQHQRQQQAD--------H--ANE-ANYAR>G<T--------R-LPLSGEG----PTSQPNSS	46
CACNA1E	-AV-VARPGS---------------GDGD->-<--------------SD-Q-SRNRQG--TPV	30
CACNA1F	GG----KDTT------------PE-PSPAN>-<-------------GAGPG----PEWGLCPG	31
CACNA1G	----------GAEESGQP-R-S-------->-<F--------M--RLND------LSG--AGG	30
CACNA1H	-RV-P--LGAPPPGPAALVGASPESPGAPG>R<E--------A--ERGS------ELG--VSP	50
CACNA1I	----------SPPSSSAAAPAA-------->-<---------E--PGVTTE----QPG--P--	28
CACNA1S	------------------------------>-<------------------------------
SCN10A	----------GSLETNNFRRFTPESLVEIE>K<QIAAKQGT-KKARE-KHRE-QKDQE--EKP	51
SCN11A	----------IFPDERNFRPFTSDSLAAIE>K<RIAIQ-KEKKKSK-----D-QTGEV--PQP	50
SCN1A	----------VPPGPDSFNFFTRESLAAIE>R<RIAEE-KAKNPKPD----K-KDDDE--NGP	49
SCN2A	----------VPPGPDSFRFFTRESLAAIE>Q<RIAEE-KAKRPKQE----RKDEDDE--NGP	50
SCN3A	----------VPPGPESFRLFTRESLAAIE>K<RAAEE-KAKKPKKE----Q-DNDDE--NKP	49
SCN4A	----------VPLGPECLRPFTRESLAAIE>Q<RAVEE-EARLQRNK----Q-MEIEE--PER	52
SCN5A	----------LPRGTSSFRRFTRESLAAIE>K<RMAEK-QARGSTTLQESRE-GLPEE--EAP	52
SCN7A	----------ASPEPKGLVPFTKESFELIK>Q<HIAKT--------H----N-EDHEE--EDL	38
SCN8A	----------APPGPDSFKPFTPESLANIE>R<RIAES-KLKKPPKADGSHR-EDDED--SKP	53
SCN9A	----------PPPGPQSFVHFTKQSLALIE>Q<RIAER-KSKEPKEE----K-KDDDE--EAP	47
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.M30T	c.89T>C	Putative Benign			SIFT: Polyphen: