No paralogue variants have been mapped to residue 1968 for SCN5A.
| SCN5A | ----------------------------SS>I<SSTSF-P----------PSYDSVT------ | 1981 |
| SCN1A | ----------------------------DL>T<MSTAACP----------PSYDRVT------ | 1990 |
| SCN2A | ----------------------------DM>T<PSTTS-P----------PSYDSVT------ | 1979 |
| SCN3A | ----------------------------DG>S<SSTTS-P----------PSYDSVT------ | 1974 |
| SCN4A | ----------------------------EK>G<EAGDA-G----------PTMGLMP------ | 1809 |
| SCN7A | ------------------------------>-<------------------------------ | |
| SCN8A | ----------------------------ES>T<PSTAS-L----------PSYDSVT------ | 1951 |
| SCN9A | ----------------------------DA>T<SSTTS-P----------PSYDSVT------ | 1951 |
| SCN10A | ----------------------------ET>A<SATSF-P----------PSYESVT------ | 1925 |
| SCN11A | ----------------------------L->-<------------------CNGDLS------ | 1779 |
| CACNA1A | ------------------------------>-<------------------------------ | |
| CACNA1B | ------------------------------>-<------------------------------ | |
| CACNA1C | -----QRPLHINKAGSS-QGDTESPSHEKL>V<DSTFTPSSY-------SSTGSNANI--NNA | 1770 |
| CACNA1D | -----HRPLHVQRPSIPPASDTEKPLFPPA>G<NSVCHNHHNHNSIGKQVPTSTNANL--NNA | 1781 |
| CACNA1E | ------------------------------>-<------------------------------ | |
| CACNA1F | -----PDSLSFG---P----------SDDD>R<G---------------TPTSSQPSV--PQA | 1713 |
| CACNA1G | ----ADT-----------SYILQLPKDAPH>L<LQPHS-APT--------WGTIPKLPPPG-- | 2121 |
| CACNA1H | ----GGE-----------EAEASDPADEEV>S<HITSS-ACP--------WQPTAEPH----- | 2118 |
| CACNA1I | LRSPRVN-----------CTLLRQATGSDT>S<LDASP-SSS--------AGSL-QTTLED-- | 2034 |
| CACNA1S | -----QRPLQFAEIE---MEEMESPVFLE->-<-D-FPQDPR-------TNPLARANT--NNA | 1664 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.I1968M | c.5904C>G | Putative Benign | rs199473333 | SIFT: tolerated Polyphen: benign | |
| 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 | ||||
| p.I1968S | c.5903T>G | Inherited Arrhythmia | BrS | rs199473639 | SIFT: tolerated Polyphen: benign |
| Reports | Inherited Arrhythmia | BrS | Cardiac histological substrate in patients with clinical phenotype of Brugada syndrome. Circulation. 2005 112(24):3680-7. 16344400 | ||
| Inherited Arrhythmia | BrS | High prevalence of genetic variants previously associated with Brugada syndrome in new exome data. Clin Genet. 2013 23414114 | |||
| Inherited Arrhythmia | BrS | 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 | ||||
| p.I1968N | c.5903T>A | Putative Benign | SIFT: Polyphen: | ||
| p.I1968V | c.5902A>G | Putative Benign | SIFT: Polyphen: | ||