No paralogue variants have been mapped to residue 34 for SCN5A.
| SCN5A | -LPRGTSSFRRFTRESLAAIEKRMAEK-QA>R<GSTTLQESRE-GLPEE--EAPRPQLDLQAS | 61 |
| SCN1A | -VPPGPDSFNFFTRESLAAIERRIAEE-KA>K<NPKPD----K-KDDDE--NGPKPNSDLEAG | 58 |
| SCN2A | -VPPGPDSFRFFTRESLAAIEQRIAEE-KA>K<RPKQE----RKDEDDE--NGPKPNSDLEAG | 59 |
| SCN3A | -VPPGPESFRLFTRESLAAIEKRAAEE-KA>K<KPKKE----Q-DNDDE--NKPKPNSDLEAG | 58 |
| SCN4A | -VPLGPECLRPFTRESLAAIEQRAVEE-EA>R<LQRNK----Q-MEIEE--PERKPRSDLEAG | 61 |
| SCN7A | -ASPEPKGLVPFTKESFELIKQHIAKT--->-<----H----N-EDHEE--EDLKPTPDLEVG | 47 |
| SCN8A | -APPGPDSFKPFTPESLANIERRIAES-KL>K<KPPKADGSHR-EDDED--SKPKPNSDLEAG | 62 |
| SCN9A | -PPPGPQSFVHFTKQSLALIEQRIAER-KS>K<EPKEE----K-KDDDE--EAPKPSSDLEAG | 56 |
| SCN10A | -GSLETNNFRRFTPESLVEIEKQIAAKQGT>-<KKARE-KHRE-QKDQE--EKPRPQLDLKAC | 60 |
| SCN11A | -IFPDERNFRPFTSDSLAAIEKRIAIQ-KE>K<KKSK-----D-QTGEV--PQPRPQLDLKAS | 59 |
| CACNA1A | G------------GGSGAAAGV-------->-<----VVGSG-GGRGAG--GSRQGGQ----- | 41 |
| CACNA1B | G------------PGGGERA---------->-<------RGG-GAGGAG--GPGPGGLQ---- | 38 |
| CACNA1C | S------------PR-PAHANMN------->-<A-NAAAGLA----PEH--IPTPGAALSWQA | 54 |
| CACNA1D | D--------H--ANE-ANYARGT------->-<R-LPLSGEG----PTSQPNSSKQTVLSWQA | 55 |
| CACNA1E | S---------------GDGD---------->-<-----SD-Q-SRNRQG--TPVPA------- | 32 |
| CACNA1F | T------------PE-PSPAN--------->-<----GAGPG----PEWGLCPGP----P--- | 33 |
| CACNA1G | -GAEESGQP-R-S---------F------->-<M--RLND------LSG--AGGRP------- | 32 |
| CACNA1H | APPPGPAALVGASPESPGAPGRE------->-<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.R34C | c.100C>T | Conflict | rs6791924 | SIFT: deleterious Polyphen: probably damaging | |
| Reports | Putative Benign | Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes. Circulation. 2002 105(16):1943-8. 11997281 | |||
| Other Cardiac Phenotype | Association of torsades de pointes with novel and known single nucleotide polymorphisms in long QT syndrome genes. Am Heart J. 2006 152(6):1116-22. 17161064 | ||||
| Other Cardiac Phenotype | Novel mutation in the SCN5A gene associated with arrhythmic storm development during acute myocardial infarction. Heart Rhythm. 2007 4(8):1072-80. 17675083 | ||||
| Inherited Arrhythmia | LQTS | Genetic predisposition and cellular basis for ischemia-induced ST-segment changes and arrhythmias. J Electrocardiol. 2007 40(6 Suppl):S26-9. 17993325 | |||
| Benign | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | ||||
| Benign | An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm. 2010 7(1):33-46. 20129283 | ||||
| Other Disease Phenotype | Genetic and forensic implications in epilepsy and cardiac arrhythmias: a case series. Int J Legal Med. 2014 25119684 | ||||
| p.R34H | c.101G>A | Putative Benign | rs199473046 | SIFT: deleterious Polyphen: probably damaging | |
| Reports | Putative Benign | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | |||
| Putative Benign | An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm. 2010 7(1):33-46. 20129283 | ||||