Paralogue Annotation for CACNA1C residue 37

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 37
Reference Amino Acid: G - Glycine
Protein Domain: N-terminus

Paralogue Variants mapped to CACNA1C residue 37

No paralogue variants have been mapped to residue 37 for CACNA1C.

CACNA1C	------PR-PAHANMN--------A-NAAA>G<LA----PEH--IPTPGAALSWQAAIDAARQ	61
CACNA1A	------GGSGAAAGV-------------VV>G<SG-GGRGAG--GSRQGGQ--------PGA-	44
CACNA1B	------PGGGERA----------------->R<GG-GAGGAG--GPGPGGLQ-------PGQ-	41
CACNA1D	--H--ANE-ANYARGT--------R-LPLS>G<EG----PTSQPNSSKQTVLSWQAAIDAARQ	62
CACNA1E	---------GDGD----------------S>D<-Q-SRNRQG--TPVPA----------SGQ-	35
CACNA1F	------PE-PSPAN--------------GA>G<PG----PEWGLCPGP----P-------AV-	35
CACNA1G	QP-R-S---------F--------M--RLN>D<------LSG--AGGRP-----------G--	33
CACNA1H	ALVGASPESPGAPGRE--------A--ERG>S<------ELG--VSPSE-----------S--	53
CACNA1I	AAAPAA------------------E--PGV>T<TE----QPG--P--RS--P-------PS--	33
CACNA1S	------------------------------>-<------------------------------
SCN10A	NFRRFTPESLVEIEKQIAAKQGT-KKARE->K<HRE-QKDQE--EKPRPQLDLKACNQLPKFY	67
SCN11A	NFRPFTSDSLAAIEKRIAIQ-KEKKKSK-->-<--D-QTGEV--PQPRPQLDLKASRKLPKLY	66
SCN1A	SFNFFTRESLAAIERRIAEE-KAKNPKPD->-<--K-KDDDE--NGPKPNSDLEAGKNLPFIY	65
SCN2A	SFRFFTRESLAAIEQRIAEE-KAKRPKQE->-<--RKDEDDE--NGPKPNSDLEAGKSLPFIY	66
SCN3A	SFRLFTRESLAAIEKRAAEE-KAKKPKKE->-<--Q-DNDDE--NKPKPNSDLEAGKNLPFIY	65
SCN4A	CLRPFTRESLAAIEQRAVEE-EARLQRNK->-<--Q-MEIEE--PERKPRSDLEAGKNLPMIY	68
SCN5A	SFRRFTRESLAAIEKRMAEK-QARGSTTLQ>E<SRE-GLPEE--EAPRPQLDLQASKKLPDLY	68
SCN7A	GLVPFTKESFELIKQHIAKT--------H->-<--N-EDHEE--EDLKPTPDLEVGKKLPFIY	54
SCN8A	SFKPFTPESLANIERRIAES-KLKKPPKAD>G<SHR-EDDED--SKPKPNSDLEAGKSLPFIY	69
SCN9A	SFVHFTKQSLALIEQRIAER-KSKEPKEE->-<--K-KDDDE--EAPKPSSDLEAGKQLPFIY	63
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See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G37R	c.109G>A	Conflict		rs34534613	SIFT: deleterious Polyphen: probably damaging
Reports		Other Cardiac Phenotype		Diagnostic yield of molecular autopsy in patients with sudden arrhythmic death syndrome using targeted exome sequencing. Europace. 2016 18(6):888-96. doi: 10.1093/europace/euv285. 26498160