Paralogue Annotation for CACNA1C residue 34

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 34
Reference Amino Acid: A - Alanine
Protein Domain: N-terminus

Paralogue Variants mapped to CACNA1C residue 34

No paralogue variants have been mapped to residue 34 for CACNA1C.

CACNA1C	---------PR-PAHANMN--------A-N>A<AAGLA----PEH--IPTPGAALSWQAAIDA	58
CACNA1A	---------GGSGAAAGV------------>-<VVGSG-GGRGAG--GSRQGGQ--------P	42
CACNA1B	---------PGGGERA-------------->-<--RGG-GAGGAG--GPGPGGLQ-------P	39
CACNA1D	-----H--ANE-ANYARGT--------R-L>P<LSGEG----PTSQPNSSKQTVLSWQAAIDA	59
CACNA1E	------------GDGD-------------->-<-SD-Q-SRNRQG--TPVPA----------S	33
CACNA1F	---------PE-PSPAN------------->-<GAGPG----PEWGLCPGP----P-------	33
CACNA1G	ESGQP-R-S---------F--------M-->R<LND------LSG--AGGRP-----------	32
CACNA1H	GPAALVGASPESPGAPGRE--------A-->E<RGS------ELG--VSPSE-----------	52
CACNA1I	SSSAAAPAA------------------E-->P<GVTTE----QPG--P--RS--P-------P	32
CACNA1S	------------------------------>-<------------------------------
SCN10A	ETNNFRRFTPESLVEIEKQIAAKQGT-KKA>R<E-KHRE-QKDQE--EKPRPQLDLKACNQLP	64
SCN11A	DERNFRPFTSDSLAAIEKRIAIQ-KEKKKS>K<-----D-QTGEV--PQPRPQLDLKASRKLP	63
SCN1A	GPDSFNFFTRESLAAIERRIAEE-KAKNPK>P<D----K-KDDDE--NGPKPNSDLEAGKNLP	62
SCN2A	GPDSFRFFTRESLAAIEQRIAEE-KAKRPK>Q<E----RKDEDDE--NGPKPNSDLEAGKSLP	63
SCN3A	GPESFRLFTRESLAAIEKRAAEE-KAKKPK>K<E----Q-DNDDE--NKPKPNSDLEAGKNLP	62
SCN4A	GPECLRPFTRESLAAIEQRAVEE-EARLQR>N<K----Q-MEIEE--PERKPRSDLEAGKNLP	65
SCN5A	GTSSFRRFTRESLAAIEKRMAEK-QARGST>T<LQESRE-GLPEE--EAPRPQLDLQASKKLP	65
SCN7A	EPKGLVPFTKESFELIKQHIAKT------->-<H----N-EDHEE--EDLKPTPDLEVGKKLP	51
SCN8A	GPDSFKPFTPESLANIERRIAES-KLKKPP>K<ADGSHR-EDDED--SKPKPNSDLEAGKSLP	66
SCN9A	GPQSFVHFTKQSLALIEQRIAER-KSKEPK>E<E----K-KDDDE--EAPKPSSDLEAGKQLP	60
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See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A34V	c.101C>T	Other Cardiac Phenotype			SIFT: tolerated Polyphen: benign
Reports		Other Cardiac Phenotype		Next generation sequencing challenges in the analysis of cardiac sudden death due to arrhythmogenic disorders. Electrophoresis. 2014 35(21-22):3111-6. doi: 10.1002/elps.201400148. 24981977