Paralogue Annotation for SCN5A residue 43

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 43
Reference Amino Acid: R - Arginine
Protein Domain: N-terminus


Paralogue Variants mapped to SCN5A residue 43

No paralogue variants have been mapped to residue 43 for SCN5A.



SCN5ARRFTRESLAAIEKRMAEK-QARGSTTLQES>R<E-GLPEE--EAPRPQLDLQASKKLPDLYGN70
SCN1ANFFTRESLAAIERRIAEE-KAKNPKPD--->-<K-KDDDE--NGPKPNSDLEAGKNLPFIYGD67
SCN2ARFFTRESLAAIEQRIAEE-KAKRPKQE--->-<RKDEDDE--NGPKPNSDLEAGKSLPFIYGD68
SCN3ARLFTRESLAAIEKRAAEE-KAKKPKKE--->-<Q-DNDDE--NKPKPNSDLEAGKNLPFIYGD67
SCN4ARPFTRESLAAIEQRAVEE-EARLQRNK--->-<Q-MEIEE--PERKPRSDLEAGKNLPMIYGD70
SCN7AVPFTKESFELIKQHIAKT--------H--->-<N-EDHEE--EDLKPTPDLEVGKKLPFIYGN56
SCN8AKPFTPESLANIERRIAES-KLKKPPKADGS>H<R-EDDED--SKPKPNSDLEAGKSLPFIYGD71
SCN9AVHFTKQSLALIEQRIAER-KSKEPKEE--->-<K-KDDDE--EAPKPSSDLEAGKQLPFIYGD65
SCN10ARRFTPESLVEIEKQIAAKQGT-KKARE-KH>R<E-QKDQE--EKPRPQLDLKACNQLPKFYGE69
SCN11ARPFTSDSLAAIEKRIAIQ-KEKKKSK---->-<D-QTGEV--PQPRPQLDLKASRKLPKLYGD68
CACNA1A----GGSGAAAGV-------------VVGS>G<-GGRGAG--GSRQGGQ--------PGA---44
CACNA1B----PGGGERA-----------------RG>G<-GAGGAG--GPGPGGLQ-------PGQ---41
CACNA1C----PR-PAHANMN--------A-NAAAGL>A<----PEH--IPTPGAALSWQAAIDAARQAK63
CACNA1DH--ANE-ANYARGT--------R-LPLSGE>G<----PTSQPNSSKQTVLSWQAAIDAARQAK64
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
CACNA1HVGASPESPGAPGRE--------A--ERGS->-<----ELG--VSPSE-----------S----53
CACNA1IAPAA------------------E--PGVTT>E<----QPG--P--RS--P-------PS----33
CACNA1S------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R43Qc.128G>A Inherited ArrhythmiaLQTSSIFT: tolerated
Polyphen: benign
ReportsOther 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 ArrhythmiaLQTS 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