No paralogue variants have been mapped to residue 1433 for SCN5A.
| SCN5A | DNVGAGYLALLQVATFKGWMDIMYAAVDSR>G<YEEQPQWEYNLYMYIYFVIFIIFGSFFTLN | 1463 |
| SCN1A | DNVGFGYLSLLQVATFKGWMDIMYAAVDSR>N<VELQPKYEESLYMYLYFVIFIIFGSFFTLN | 1476 |
| SCN2A | DNVGLGYLSLLQVATFKGWMDIMYAAVDSR>N<VELQPKYEDNLYMYLYFVIFIIFGSFFTLN | 1466 |
| SCN3A | DNVGAGYLALLQVATFKGWMDIMYAAVDSR>D<VKLQPVYEENLYMYLYFVIFIIFGSFFTLN | 1461 |
| SCN4A | DNVGLGYLSLLQVATFKGWMDIMYAAVDSR>E<KEEQPQYEVNLYMYLYFVIFIIFGSFFTLN | 1288 |
| SCN7A | DNVGNGFLSLLQVATFNGWITIMNSAIDSV>A<VNIQPHFEVNIYMYCYFINFIIFGVFLPLS | 1186 |
| SCN8A | DNVGAGYLALLQVATFKGWMDIMYAAVDSR>K<PDEQPKYEDNIYMYIYFVIFIIFGSFFTLN | 1457 |
| SCN9A | DNVGLGYLSLLQVATFKGWTIIMYAAVDSV>N<VDKQPKYEYSLYMYIYFVVFIIFGSFFTLN | 1439 |
| SCN10A | DNVAMGYLALLQVATFKGWMDIMYAAVDSR>E<VNMQPKWEDNVYMYLYFVIFIIFGGFFTLN | 1411 |
| SCN11A | DNVGNAYLALLQVATFKGWMDIIYAAVDST>E<KEQQPEFESNSLGYIYFVVFIIFGSFFTLN | 1301 |
| CACNA1A | DNVLWALLTLFTVSTGEGWPQVLKHSVDAT>F<ENQGPSPGYRMEMSIFYVVYFVVFPFFFVN | 1504 |
| CACNA1B | DNVLWALLTLFTVSTGEGWPMVLKHSVDAT>Y<EEQGPSPGYRMELSIFYVVYFVVFPFFFVN | 1410 |
| CACNA1C | DNVLAAMMALFTVSTFEGWPELLYRSIDSH>T<EDKGPIYNYRVEISIFFIIYIIIIAFFMMN | 1159 |
| CACNA1D | DNVLSAMMALFTVSTFEGWPALLYKAIDSN>G<ENIGPIYNHRVEISIFFIIYIIIVAFFMMN | 1165 |
| CACNA1E | DNIIWALLTLFTVSTGEGWPQVLQHSVDVT>E<EDRGPSRSNRMEMSIFYVVYFVVFPFFFVN | 1416 |
| CACNA1F | DNVLSAMMALFTVSTFEGWPALLYKAIDAY>A<EDHGPIYNYRVEISVFFIVYIIIIAFFMMN | 1130 |
| CACNA1G | DNLGQALMSLFVLASKDGWVDIMYDGLDAV>G<VDQQPIMNHNPWMLLYFISFLLIVAFFVLN | 1530 |
| CACNA1H | DNLGQALMSLFVLSSKDGWVNIMYDGLDAV>G<VDQQPVQNHNPWMLLYFISFLLIVSFFVLN | 1548 |
| CACNA1I | DNLGQALMSLFVLASKDGWVNIMYNGLDAV>A<VDQQPVTNHNPWMLLYFISFLLIVSFFVLN | 1424 |
| CACNA1S | DNVLSAMMSLFTVSTFEGWPQLLYKAIDSN>A<EDVGPIYNNRVEMAIFFIIYIILIAFFMMN | 1058 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.G1433V | c.4298G>T | Inherited Arrhythmia | BrS | rs199473247 | SIFT: deleterious Polyphen: possibly damaging |
| Reports | 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 | ||
| p.G1433R | c.4297G>C | Other Cardiac Phenotype | SIFT: Polyphen: | ||
| Reports | Other Cardiac Phenotype | A heterozygous missense SCN5A mutation associated with early repolarization syndrome. Int J Mol Med. 2013 32(3):661-7. doi: 10.3892/ijmm.2013.1422. 23799537 | |||