No paralogue variants have been mapped to residue 1430 for SCN5A.
| SCN5A | VNFDNVGAGYLALLQVATFKGWMDIMYAAV>D<SRGYEEQPQWEYNLYMYIYFVIFIIFGSFF | 1460 |
| SCN1A | VNFDNVGFGYLSLLQVATFKGWMDIMYAAV>D<SRNVELQPKYEESLYMYLYFVIFIIFGSFF | 1473 |
| SCN2A | VNFDNVGLGYLSLLQVATFKGWMDIMYAAV>D<SRNVELQPKYEDNLYMYLYFVIFIIFGSFF | 1463 |
| SCN3A | VNFDNVGAGYLALLQVATFKGWMDIMYAAV>D<SRDVKLQPVYEENLYMYLYFVIFIIFGSFF | 1458 |
| SCN4A | VNYDNVGLGYLSLLQVATFKGWMDIMYAAV>D<SREKEEQPQYEVNLYMYLYFVIFIIFGSFF | 1285 |
| SCN7A | MNFDNVGNGFLSLLQVATFNGWITIMNSAI>D<SVAVNIQPHFEVNIYMYCYFINFIIFGVFL | 1183 |
| SCN8A | INFDNVGAGYLALLQVATFKGWMDIMYAAV>D<SRKPDEQPKYEDNIYMYIYFVIFIIFGSFF | 1454 |
| SCN9A | VNFDNVGLGYLSLLQVATFKGWTIIMYAAV>D<SVNVDKQPKYEYSLYMYIYFVVFIIFGSFF | 1436 |
| SCN10A | VNFDNVAMGYLALLQVATFKGWMDIMYAAV>D<SREVNMQPKWEDNVYMYLYFVIFIIFGGFF | 1408 |
| SCN11A | VNFDNVGNAYLALLQVATFKGWMDIIYAAV>D<STEKEQQPEFESNSLGYIYFVVFIIFGSFF | 1298 |
| CACNA1A | FHYDNVLWALLTLFTVSTGEGWPQVLKHSV>D<ATFENQGPSPGYRMEMSIFYVVYFVVFPFF | 1501 |
| CACNA1B | FHYDNVLWALLTLFTVSTGEGWPMVLKHSV>D<ATYEEQGPSPGYRMELSIFYVVYFVVFPFF | 1407 |
| CACNA1C | FDFDNVLAAMMALFTVSTFEGWPELLYRSI>D<SHTEDKGPIYNYRVEISIFFIIYIIIIAFF | 1156 |
| CACNA1D | FNFDNVLSAMMALFTVSTFEGWPALLYKAI>D<SNGENIGPIYNHRVEISIFFIIYIIIVAFF | 1162 |
| CACNA1E | FHYDNIIWALLTLFTVSTGEGWPQVLQHSV>D<VTEEDRGPSRSNRMEMSIFYVVYFVVFPFF | 1413 |
| CACNA1F | FNFDNVLSAMMALFTVSTFEGWPALLYKAI>D<AYAEDHGPIYNYRVEISVFFIVYIIIIAFF | 1127 |
| CACNA1G | YNFDNLGQALMSLFVLASKDGWVDIMYDGL>D<AVGVDQQPIMNHNPWMLLYFISFLLIVAFF | 1527 |
| CACNA1H | YNFDNLGQALMSLFVLSSKDGWVNIMYDGL>D<AVGVDQQPVQNHNPWMLLYFISFLLIVSFF | 1545 |
| CACNA1I | YNFDNLGQALMSLFVLASKDGWVNIMYNGL>D<AVAVDQQPVTNHNPWMLLYFISFLLIVSFF | 1421 |
| CACNA1S | FHFDNVLSAMMSLFTVSTFEGWPQLLYKAI>D<SNAEDVGPIYNNRVEMAIFFIIYIILIAFF | 1055 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.D1430N | c.4288G>A | Other Cardiac Phenotype | SIFT: deleterious Polyphen: probably damaging | ||
| Reports | Other Cardiac Phenotype | Novel SCN5A mutations in two families with "Brugada-like" ST elevation in the inferior leads and conduction disturbances. J Interv Card Electrophysiol. 2013 37(2):131-40. doi: 10.1007/s10840-013-9805-7. 23612926 | |||