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 |
cons | > < |
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 |