Paralogue Annotation for CACNA1C residue 31

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 31
Reference Amino Acid: N - Asparagine
Protein Domain: N-terminus

Paralogue Variants mapped to CACNA1C residue 31

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN5A	R27H	Brugada syndrome	Medium	2	11901046, 19716085, 23805106
SCN1A	R28C	Generalized epilepsy with febrile seizures plus	Medium	2	18804930, 26990884
SCN2A	R28C	Autism spectrum disorder	Medium	2	23849776

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	NHQGSNYGS------------PR-PAHANM>N<--------A-NAAAGLA----PEH--IPTP	46
CACNA1A	EM-PARYGG------------GGSGAAAGV>-<------------VVGSG-GGRGAG--GSRQ	38
CACNA1B	EL-GGRYGG------------PGGGERA-->-<--------------RGG-GAGGAG--GPGP	34
CACNA1D	QHQRQQQAD--------H--ANE-ANYARG>T<--------R-LPLSGEG----PTSQPNSSK	47
CACNA1E	AV-VARPGS---------------GDGD-->-<-------------SD-Q-SRNRQG--TPVP	31
CACNA1F	G----KDTT------------PE-PSPAN->-<------------GAGPG----PEWGLCPGP	32
CACNA1G	---------GAEESGQP-R-S--------->F<--------M--RLND------LSG--AGGR	31
CACNA1H	RV-P--LGAPPPGPAALVGASPESPGAPGR>E<--------A--ERGS------ELG--VSPS	51
CACNA1I	---------SPPSSSAAAPAA--------->-<--------E--PGVTTE----QPG--P--R	29
CACNA1S	------------------------------>-<------------------------------
SCN10A	---------GSLETNNFRRFTPESLVEIEK>Q<IAAKQGT-KKARE-KHRE-QKDQE--EKPR	52
SCN11A	---------IFPDERNFRPFTSDSLAAIEK>R<IAIQ-KEKKKSK-----D-QTGEV--PQPR	51
SCN1A	---------VPPGPDSFNFFTRESLAAIER>R<IAEE-KAKNPKPD----K-KDDDE--NGPK	50
SCN2A	---------VPPGPDSFRFFTRESLAAIEQ>R<IAEE-KAKRPKQE----RKDEDDE--NGPK	51
SCN3A	---------VPPGPESFRLFTRESLAAIEK>R<AAEE-KAKKPKKE----Q-DNDDE--NKPK	50
SCN4A	---------VPLGPECLRPFTRESLAAIEQ>R<AVEE-EARLQRNK----Q-MEIEE--PERK	53
SCN5A	---------LPRGTSSFRRFTRESLAAIEK>R<MAEK-QARGSTTLQESRE-GLPEE--EAPR	53
SCN7A	---------ASPEPKGLVPFTKESFELIKQ>H<IAKT--------H----N-EDHEE--EDLK	39
SCN8A	---------APPGPDSFKPFTPESLANIER>R<IAES-KLKKPPKADGSHR-EDDED--SKPK	54
SCN9A	---------PPPGPQSFVHFTKQSLALIEQ>R<IAER-KSKEPKEE----K-KDDDE--EAPK	48
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.N31D	c.91A>G	Putative Benign			SIFT: tolerated Polyphen: benign