No paralogue variants have been mapped to residue 18 for SCN5A.
| SCN5A | N-F-L-------------LPRGTSSFRRFT>R<ESLAAIEKRMAEK-QARGSTTLQESRE-GL | 46 |
| SCN1A | T-V-L-------------VPPGPDSFNFFT>R<ESLAAIERRIAEE-KAKNPKPD----K-KD | 43 |
| SCN2A | S-V-L-------------VPPGPDSFRFFT>R<ESLAAIEQRIAEE-KAKRPKQE----RKDE | 44 |
| SCN3A | A-L-L-------------VPPGPESFRLFT>R<ESLAAIEKRAAEE-KAKKPKKE----Q-DN | 43 |
| SCN4A | C-T-L-------------VPLGPECLRPFT>R<ESLAAIEQRAVEE-EARLQRNK----Q-ME | 46 |
| SCN7A | --M-L-------------ASPEPKGLVPFT>K<ESFELIKQHIAKT--------H----N-ED | 32 |
| SCN8A | R-L-L-------------APPGPDSFKPFT>P<ESLANIERRIAES-KLKKPPKADGSHR-ED | 47 |
| SCN9A | A-M-L-------------PPPGPQSFVHFT>K<QSLALIEQRIAER-KSKEPKEE----K-KD | 41 |
| SCN10A | F-P-I-------------GSLETNNFRRFT>P<ESLVEIEKQIAAKQGT-KKARE-KHRE-QK | 45 |
| SCN11A | Y-P-V-------------IFPDERNFRPFT>S<DSLAAIEKRIAIQ-KEKKKSK-----D-QT | 44 |
| CACNA1A | ---GD----EM-PARYGG------------>G<GSGAAAGV-------------VVGSG-GGR | 31 |
| CACNA1B | ---GD----EL-GGRYGG------------>P<GGGERA-----------------RGG-GAG | 27 |
| CACNA1C | R--MYIPEENHQGSNYGS------------>P<R-PAHANMN--------A-NAAAGLA---- | 39 |
| CACNA1D | ---MMMKKMQHQRQQQAD--------H--A>N<E-ANYARGT--------R-LPLSGEG---- | 38 |
| CACNA1E | ---GE----AV-VARPGS------------>-<--GDGD----------------SD-Q-SRN | 24 |
| CACNA1F | ---E----GG----KDTT------------>P<E-PSPAN--------------GAGPG---- | 23 |
| CACNA1G | D--GA-------------GAEESGQP-R-S>-<--------F--------M--RLND------ | 24 |
| CACNA1H | RAADE--V-RV-P--LGAPPPGPAALVGAS>P<ESPGAPGRE--------A--ERGS------ | 44 |
| CACNA1I | ---SA-------------SPPSSSAAAPAA>-<-----------------E--PGVTTE---- | 24 |
| CACNA1S | ------------------------------>-<------------------------------ | |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R18Q | c.53G>A | Inherited Arrhythmia | LQTS,BrS | rs41311087 | SIFT: deleterious Polyphen: possibly damaging |
| Reports | Inherited Arrhythmia | LQTS | 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 | ||
| Inherited Arrhythmia | BrS | 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 | |||
| Inherited Arrhythmia | LQTS | 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 | |||
| p.R18W | c.52C>T | Inherited Arrhythmia | LQTS | rs199473044 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm. 2005 2(5):507-17. 15840476 | ||
| 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 | ||||
| Inherited Arrhythmia | LQTS | 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 | |||
| Unknown | Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart. 2015 101(4):294-301. doi: 10.1136/heartjnl-2014-306387. 25351510 | ||||