Paralogue Annotation for SCN5A residue 29

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 29
Reference Amino Acid: A - Alanine
Protein Domain: N-terminus


Paralogue Variants mapped to SCN5A residue 29

No paralogue variants have been mapped to residue 29 for SCN5A.



SCN5A-------LPRGTSSFRRFTRESLAAIEKRM>A<EK-QARGSTTLQESRE-GLPEE--EAPRPQ55
SCN1A-------VPPGPDSFNFFTRESLAAIERRI>A<EE-KAKNPKPD----K-KDDDE--NGPKPN52
SCN2A-------VPPGPDSFRFFTRESLAAIEQRI>A<EE-KAKRPKQE----RKDEDDE--NGPKPN53
SCN3A-------VPPGPESFRLFTRESLAAIEKRA>A<EE-KAKKPKKE----Q-DNDDE--NKPKPN52
SCN4A-------VPLGPECLRPFTRESLAAIEQRA>V<EE-EARLQRNK----Q-MEIEE--PERKPR55
SCN7A-------ASPEPKGLVPFTKESFELIKQHI>A<KT--------H----N-EDHEE--EDLKPT41
SCN8A-------APPGPDSFKPFTPESLANIERRI>A<ES-KLKKPPKADGSHR-EDDED--SKPKPN56
SCN9A-------PPPGPQSFVHFTKQSLALIEQRI>A<ER-KSKEPKEE----K-KDDDE--EAPKPS50
SCN10A-------GSLETNNFRRFTPESLVEIEKQI>A<AKQGT-KKARE-KHRE-QKDQE--EKPRPQ54
SCN11A-------IFPDERNFRPFTSDSLAAIEKRI>A<IQ-KEKKKSK-----D-QTGEV--PQPRPQ53
CACNA1A-PARYGG------------GGSGAAAGV-->-<----------VVGSG-GGRGAG--GSRQGG40
CACNA1B-GGRYGG------------PGGGERA---->-<------------RGG-GAGGAG--GPGPGG36
CACNA1CQGSNYGS------------PR-PAHANMN->-<------A-NAAAGLA----PEH--IPTPGA48
CACNA1DQRQQQAD--------H--ANE-ANYARGT->-<------R-LPLSGEG----PTSQPNSSKQT49
CACNA1E-VARPGS---------------GDGD---->-<-----------SD-Q-SRNRQG--TPVPA-32
CACNA1F---KDTT------------PE-PSPAN--->-<----------GAGPG----PEWGLCPGP--32
CACNA1G-------GAEESGQP-R-S---------F->-<------M--RLND------LSG--AGGRP-32
CACNA1H-P--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.A29Vc.86C>T Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing. BMC Cardiovasc Disord. 2012 12:95. doi: 10.1186/1471-2261-12-95. 23098067