No paralogue variants have been mapped to residue 35 for SCN5A.
| SCN5A | LPRGTSSFRRFTRESLAAIEKRMAEK-QAR>G<STTLQESRE-GLPEE--EAPRPQLDLQASK | 62 |
| SCN1A | VPPGPDSFNFFTRESLAAIERRIAEE-KAK>N<PKPD----K-KDDDE--NGPKPNSDLEAGK | 59 |
| SCN2A | VPPGPDSFRFFTRESLAAIEQRIAEE-KAK>R<PKQE----RKDEDDE--NGPKPNSDLEAGK | 60 |
| SCN3A | VPPGPESFRLFTRESLAAIEKRAAEE-KAK>K<PKKE----Q-DNDDE--NKPKPNSDLEAGK | 59 |
| SCN4A | VPLGPECLRPFTRESLAAIEQRAVEE-EAR>L<QRNK----Q-MEIEE--PERKPRSDLEAGK | 62 |
| SCN7A | ASPEPKGLVPFTKESFELIKQHIAKT---->-<---H----N-EDHEE--EDLKPTPDLEVGK | 48 |
| SCN8A | APPGPDSFKPFTPESLANIERRIAES-KLK>K<PPKADGSHR-EDDED--SKPKPNSDLEAGK | 63 |
| SCN9A | PPPGPQSFVHFTKQSLALIEQRIAER-KSK>E<PKEE----K-KDDDE--EAPKPSSDLEAGK | 57 |
| SCN10A | GSLETNNFRRFTPESLVEIEKQIAAKQGT->K<KARE-KHRE-QKDQE--EKPRPQLDLKACN | 61 |
| SCN11A | IFPDERNFRPFTSDSLAAIEKRIAIQ-KEK>K<KSK-----D-QTGEV--PQPRPQLDLKASR | 60 |
| CACNA1A | ------------GGSGAAAGV--------->-<---VVGSG-GGRGAG--GSRQGGQ------ | 41 |
| CACNA1B | ------------PGGGERA----------->-<-----RGG-GAGGAG--GPGPGGLQ----- | 38 |
| CACNA1C | ------------PR-PAHANMN-------->A<-NAAAGLA----PEH--IPTPGAALSWQAA | 55 |
| CACNA1D | --------H--ANE-ANYARGT-------->R<-LPLSGEG----PTSQPNSSKQTVLSWQAA | 56 |
| CACNA1E | ---------------GDGD----------->-<----SD-Q-SRNRQG--TPVPA-------- | 32 |
| CACNA1F | ------------PE-PSPAN---------->-<---GAGPG----PEWGLCPGP----P---- | 33 |
| CACNA1G | GAEESGQP-R-S---------F-------->M<--RLND------LSG--AGGRP-------- | 32 |
| CACNA1H | PPPGPAALVGASPESPGAPGRE-------->A<--ERGS------ELG--VSPSE-------- | 52 |
| CACNA1I | SPPSSSAAAPAA------------------>E<--PGVTTE----QPG--P--RS--P----- | 31 |
| CACNA1S | ------------------------------>-<------------------------------ | |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.G35S | c.103G>A | Inherited Arrhythmia | LQTS,BrS | rs199473552 | SIFT: tolerated Polyphen: benign |
| Reports | Inherited Arrhythmia | BrS | Genetic analysis of Brugada syndrome in Israel: two novel mutations and possible genetic heterogeneity. Genet Test. 2001 5(4):331-4. 11960580 | ||
| Inherited Arrhythmia | LQTS | Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers. Scand J Clin Lab Invest. 2008 68(5):362-8. 18752142 | |||
| Inherited Arrhythmia | BrS | Characterization of N-terminally mutated cardiac Na(+) channels associated with long QT syndrome 3 and Brugada syndrome. Front Physiol. 2013 4:153. doi: 10.3389/fphys.2013.00153. eCollection 23805106 | |||
| Inherited Arrhythmia | BrS | High prevalence of genetic variants previously associated with Brugada syndrome in new exome data. Clin Genet. 2013 23414114 | |||