No paralogue variants have been mapped to residue 1904 for SCN5A.
| SCN5A | KFMA---ANP-SKISYEPITTTLRRKHEEV>S<----AMVIQRAF-RRHLLQRS--LKHA-SF | 1926 |
| SCN1A | RFMA---SNP-SKVSYQPITTTLKRKQEEV>S<----AVIIQRAY-RRHLLKRT--VKQA-SF | 1940 |
| SCN2A | RFMA---SNP-SKVSYEPITTTLKRKQEEV>S<----AIIIQRAY-RRYLLKQK--VKKV-SS | 1930 |
| SCN3A | RFMA---SNP-SKVSYEPITTTLKRKQEEV>S<----AAIIQRNF-RCYLLKQR--LKNI-SS | 1925 |
| SCN4A | KFMA---ANP-SKVSYEPITTTLKRKHEEV>C<----AIKIQRAY-RRHLLQRS--MKQA-SY | 1752 |
| SCN7A | GFLL---ANP-FKITCEPITTTLKRKQEAV>S<----ATIIQRAY-KNYRLRRN--DKNT-SD | 1650 |
| SCN8A | RFVA---SNP-SKVSYEPITTTLRRKQEEV>S<----AVVLQRAY-RGHLARRG--FIC---- | 1917 |
| SCN9A | RFMS---ANP-SKVSYEPITTTLKRKQEDV>S<----ATVIQRAY-RRYRLRQN--VKNI-SS | 1903 |
| SCN10A | KFMA---TNL-SKSSYEPIATTLRWKQEDI>S<----ATVIQKAY-RSYVLHRS--MALS-NT | 1876 |
| SCN11A | KFME---ANP-LKKLYEPIVTTTKRKEEER>G<----AAIIQKAF-RKYMMKVT--KGDQ-G- | 1757 |
| CACNA1A | EMMAIW-PNL-SQKTLDLLVTPHKSTDLTV>G<KIYAAMMIMEYY-RQSKAKK--LQAMR-E- | 1979 |
| CACNA1B | EISVVW-ANL-PQKTLDLLVPPHKPDEMTV>G<KVYAALMIFDFY-KQNKTTRDQMQQAPGG- | 1881 |
| CACNA1C | IIKKIW-KRT-SMKLLDQVVPPAGDDEVTV>G<KFYATFLIQEYF-RKFKKRKE--QGLV-GK | 1642 |
| CACNA1D | VIKKIW-KKT-SMKLLDQVVPPAGDDEVTV>G<KFYATFLIQDYF-RKFKKRKE--QGLV-GK | 1650 |
| CACNA1E | ETLAIW-PHL-SQKMLDLLVPMPKASDLTV>G<KIYAAMMIMDYY-KQSKVKKQ--RQQL-E- | 1891 |
| CACNA1F | VIKKIW-KRM-KQKLLDEVIPPPDEEEVTV>G<KFYATFLIQDYF-RKFRRRKE--KGLL-GN | 1607 |
| CACNA1G | KLMDEL-AGPGGQPSAFPSAPSLGGSDP-->-<--QIPLAEMEAL-SLTSEIVS--EPSC--- | 1996 |
| CACNA1H | ML-SLPNDSYM----FRPVVPASAPHPR-->-<--PLQEVEMETYGAGTPLGSV--ASVH-SP | 1971 |
| CACNA1I | TIIDNL-SGSI----FHHYSSPAGCKKCHH>D<KQEVQLAETEAF-SLNSDRSS--SILL-GD | 1870 |
| CACNA1S | IIKKIW-KRT-SMKLLDQVIPPIGDDEVTV>G<KFYATFLIQEHF-RKFMKRQE--EYY--GY | 1546 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.S1904L | c.5711C>T | Inherited Arrhythmia | LQTS,BrS | rs150264233 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | A novel LQT-3 mutation disrupts an inactivation gate complex with distinct rate-dependent phenotypic consequences. Channels (Austin). 2007 1(4):273-80. 18708744 | ||
| 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 | High prevalence of genetic variants previously associated with LQT syndrome in new exome data. Eur J Hum Genet. 2012 20(8):905-8. doi: 10.1038/ejhg.2012.23. 22378279 | |||
| Inherited Arrhythmia | LQTS | Perturbation of sodium channel structure by an inherited Long QT Syndrome mutation. Nat Commun. 2012 3:706. doi: 10.1038/ncomms1717. 22426227 | |||
| Inherited Arrhythmia | LQTS | Actionable, pathogenic incidental findings in 1,000 participants' exomes. Am J Hum Genet. 2013 93(4):631-40. doi: 10.1016/j.ajhg.2013.08.006. 24055113 | |||
| Unknown | Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 25(3):305-15. doi: 10.1101/gr.183483.114. 25637381 | ||||
| Inherited Arrhythmia | LQTS | Rare genetic variants previously associated with congenital forms of long QT syndrome have little or no effect on the QT interval. Eur Heart J. 2015 36(37):2523-9. doi: 10.1093/eurheartj/ehv297. 26159999 | |||
| Inherited Arrhythmia | LQTS | Identification of Medically Actionable Secondary Findings in the 1000 Genomes. PLoS One. 2015 10(9):e0135193. doi: 10.1371/journal.pone.0135193. 26332594 | |||