Paralogue Annotation for SCN5A residue 30

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 30
Reference Amino Acid: E - Glutamate
Protein Domain: N-terminus


Paralogue Variants mapped to SCN5A residue 30

No paralogue variants have been mapped to residue 30 for SCN5A.



SCN5A------LPRGTSSFRRFTRESLAAIEKRMA>E<K-QARGSTTLQESRE-GLPEE--EAPRPQL56
SCN1A------VPPGPDSFNFFTRESLAAIERRIA>E<E-KAKNPKPD----K-KDDDE--NGPKPNS53
SCN2A------VPPGPDSFRFFTRESLAAIEQRIA>E<E-KAKRPKQE----RKDEDDE--NGPKPNS54
SCN3A------VPPGPESFRLFTRESLAAIEKRAA>E<E-KAKKPKKE----Q-DNDDE--NKPKPNS53
SCN4A------VPLGPECLRPFTRESLAAIEQRAV>E<E-EARLQRNK----Q-MEIEE--PERKPRS56
SCN7A------ASPEPKGLVPFTKESFELIKQHIA>K<T--------H----N-EDHEE--EDLKPTP42
SCN8A------APPGPDSFKPFTPESLANIERRIA>E<S-KLKKPPKADGSHR-EDDED--SKPKPNS57
SCN9A------PPPGPQSFVHFTKQSLALIEQRIA>E<R-KSKEPKEE----K-KDDDE--EAPKPSS51
SCN10A------GSLETNNFRRFTPESLVEIEKQIA>A<KQGT-KKARE-KHRE-QKDQE--EKPRPQL55
SCN11A------IFPDERNFRPFTSDSLAAIEKRIA>I<Q-KEKKKSK-----D-QTGEV--PQPRPQL54
CACNA1APARYGG------------GGSGAAAGV--->-<---------VVGSG-GGRGAG--GSRQGGQ41
CACNA1BGGRYGG------------PGGGERA----->-<-----------RGG-GAGGAG--GPGPGGL37
CACNA1CGSNYGS------------PR-PAHANMN-->-<-----A-NAAAGLA----PEH--IPTPGAA49
CACNA1DRQQQAD--------H--ANE-ANYARGT-->-<-----R-LPLSGEG----PTSQPNSSKQTV50
CACNA1EVARPGS---------------GDGD----->-<----------SD-Q-SRNRQG--TPVPA--32
CACNA1F--KDTT------------PE-PSPAN---->-<---------GAGPG----PEWGLCPGP---32
CACNA1G------GAEESGQP-R-S---------F-->-<-----M--RLND------LSG--AGGRP--32
CACNA1HP--LGAPPPGPAALVGASPESPGAPGRE-->-<-----A--ERGS------ELG--VSPSE--52
CACNA1I------SPPSSSAAAPAA------------>-<-----E--PGVTTE----QPG--P--RS--30
CACNA1S------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E30Gc.89A>G Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited 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