No paralogue variants have been mapped to residue 43 for SCN5A.
SCN5A | RRFTRESLAAIEKRMAEK-QARGSTTLQES>R<E-GLPEE--EAPRPQLDLQASKKLPDLYGN | 70 |
SCN1A | NFFTRESLAAIERRIAEE-KAKNPKPD--->-<K-KDDDE--NGPKPNSDLEAGKNLPFIYGD | 67 |
SCN2A | RFFTRESLAAIEQRIAEE-KAKRPKQE--->-<RKDEDDE--NGPKPNSDLEAGKSLPFIYGD | 68 |
SCN3A | RLFTRESLAAIEKRAAEE-KAKKPKKE--->-<Q-DNDDE--NKPKPNSDLEAGKNLPFIYGD | 67 |
SCN4A | RPFTRESLAAIEQRAVEE-EARLQRNK--->-<Q-MEIEE--PERKPRSDLEAGKNLPMIYGD | 70 |
SCN7A | VPFTKESFELIKQHIAKT--------H--->-<N-EDHEE--EDLKPTPDLEVGKKLPFIYGN | 56 |
SCN8A | KPFTPESLANIERRIAES-KLKKPPKADGS>H<R-EDDED--SKPKPNSDLEAGKSLPFIYGD | 71 |
SCN9A | VHFTKQSLALIEQRIAER-KSKEPKEE--->-<K-KDDDE--EAPKPSSDLEAGKQLPFIYGD | 65 |
SCN10A | RRFTPESLVEIEKQIAAKQGT-KKARE-KH>R<E-QKDQE--EKPRPQLDLKACNQLPKFYGE | 69 |
SCN11A | RPFTSDSLAAIEKRIAIQ-KEKKKSK---->-<D-QTGEV--PQPRPQLDLKASRKLPKLYGD | 68 |
CACNA1A | ----GGSGAAAGV-------------VVGS>G<-GGRGAG--GSRQGGQ--------PGA--- | 44 |
CACNA1B | ----PGGGERA-----------------RG>G<-GAGGAG--GPGPGGLQ-------PGQ--- | 41 |
CACNA1C | ----PR-PAHANMN--------A-NAAAGL>A<----PEH--IPTPGAALSWQAAIDAARQAK | 63 |
CACNA1D | H--ANE-ANYARGT--------R-LPLSGE>G<----PTSQPNSSKQTVLSWQAAIDAARQAK | 64 |
CACNA1E | -------GDGD----------------SD->Q<-SRNRQG--TPVPA----------SGQ--- | 35 |
CACNA1F | ----PE-PSPAN--------------GAGP>G<----PEWGLCPGP----P-------AV--- | 35 |
CACNA1G | -R-S---------F--------M--RLND->-<----LSG--AGGRP-----------G---- | 33 |
CACNA1H | VGASPESPGAPGRE--------A--ERGS->-<----ELG--VSPSE-----------S---- | 53 |
CACNA1I | APAA------------------E--PGVTT>E<----QPG--P--RS--P-------PS---- | 33 |
CACNA1S | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R43Q | c.128G>A | Inherited Arrhythmia | LQTS | rs199473047 | SIFT: tolerated Polyphen: benign |
Reports | Other Cardiac Phenotype | In utero onset of long QT syndrome with atrioventricular block and spontaneous or lidocaine-induced ventricular tachycardia: compound effects of hERG pore region mutation and SCN5A N-terminus variant. Heart Rhythm. 2008 5(11):1567-74. 18848812 | |||
Other Cardiac Phenotype | Look beyond the hERG mutation: a neutral SCN5A variant may turn lidocaine into a threat. Heart Rhythm. 2008 5(11):1575-6. 18984535 | ||||
Inherited Arrhythmia | LQTS | Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085 |