No paralogue variants have been mapped to residue 29 for SCN5A.
SCN5A | -------LPRGTSSFRRFTRESLAAIEKRM>A<EK-QARGSTTLQESRE-GLPEE--EAPRPQ | 55 |
SCN1A | -------VPPGPDSFNFFTRESLAAIERRI>A<EE-KAKNPKPD----K-KDDDE--NGPKPN | 52 |
SCN2A | -------VPPGPDSFRFFTRESLAAIEQRI>A<EE-KAKRPKQE----RKDEDDE--NGPKPN | 53 |
SCN3A | -------VPPGPESFRLFTRESLAAIEKRA>A<EE-KAKKPKKE----Q-DNDDE--NKPKPN | 52 |
SCN4A | -------VPLGPECLRPFTRESLAAIEQRA>V<EE-EARLQRNK----Q-MEIEE--PERKPR | 55 |
SCN7A | -------ASPEPKGLVPFTKESFELIKQHI>A<KT--------H----N-EDHEE--EDLKPT | 41 |
SCN8A | -------APPGPDSFKPFTPESLANIERRI>A<ES-KLKKPPKADGSHR-EDDED--SKPKPN | 56 |
SCN9A | -------PPPGPQSFVHFTKQSLALIEQRI>A<ER-KSKEPKEE----K-KDDDE--EAPKPS | 50 |
SCN10A | -------GSLETNNFRRFTPESLVEIEKQI>A<AKQGT-KKARE-KHRE-QKDQE--EKPRPQ | 54 |
SCN11A | -------IFPDERNFRPFTSDSLAAIEKRI>A<IQ-KEKKKSK-----D-QTGEV--PQPRPQ | 53 |
CACNA1A | -PARYGG------------GGSGAAAGV-->-<----------VVGSG-GGRGAG--GSRQGG | 40 |
CACNA1B | -GGRYGG------------PGGGERA---->-<------------RGG-GAGGAG--GPGPGG | 36 |
CACNA1C | QGSNYGS------------PR-PAHANMN->-<------A-NAAAGLA----PEH--IPTPGA | 48 |
CACNA1D | QRQQQAD--------H--ANE-ANYARGT->-<------R-LPLSGEG----PTSQPNSSKQT | 49 |
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 | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A29V | c.86C>T | Inherited Arrhythmia | LQTS | SIFT: deleterious Polyphen: probably damaging | |
Reports | Inherited Arrhythmia | LQTS | 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 |