No paralogue variants have been mapped to residue 1991 for SCN5A.
| SCN5A | -------------------RA-TSDN-LQV>R<G----------------------------- | 1992 |
| SCN1A | -------------------KP-IVEK-HE->-<------------------------------ | 1998 |
| SCN2A | -------------------KP-EKEK-FE->-<------------------------------ | 1987 |
| SCN3A | -------------------KP-DKEK-FE->-<------------------------------ | 1982 |
| SCN4A | -------------------IS-PSDTAWP->-<------------------------------ | 1818 |
| SCN7A | -------------------------K---->-<------------------------------ | 1675 |
| SCN8A | -------------------KP-EKEK-QQR>A<E----------------------------- | 1962 |
| SCN9A | -------------------KP-DKEK-YE->-<------------------------------ | 1959 |
| SCN10A | -------------------RG-LSDR-VNM>R<T----------------------------- | 1936 |
| SCN11A | -------------------SF-GVAK---->-<------------------------------ | 1785 |
| CACNA1A | ----GTDLSMTTQSGDLP------SK-ERD>Q<ERGRPKDR---------------------- | 2206 |
| CACNA1B | ----SSAVGPGLPPGEGPTGC-RRER-ERR>Q<ERGRSQERRQPSSSSS----EKQRFYSCDR | 2133 |
| CACNA1C | EDKRDIRQSPKRGFLRSA-SL-GR-R-ASF>H<LECLKRQKDRGGDIS-----Q--------- | 1916 |
| CACNA1D | PVCYDSRRSPRRRLLPPT-PASHR-R-SSF>N<FECLRRQSSQEEVPSSPIFPH--------- | 1965 |
| CACNA1E | ----KSDT----------------HR-SGG>R<ERGRSKERKHLLSPDV----SRCN--SEER | 2105 |
| CACNA1F | QRYMDGHLVPRRRLLPPT-PA-GR-K-PSF>T<IQCLQRQGSCEDLPIPGTY----------- | 1823 |
| CACNA1G | -----SHSKISKHMTPPA-PCPGP-E-PNW>G<KGPPETRSSLELDTE--------------- | 2220 |
| CACNA1H | -----------------G-PEASP-V-AGG>E<------------------------------ | 2129 |
| CACNA1I | ----------RRALGPPA-PAPGP-R-AGL>S<------------------------------ | 2060 |
| CACNA1S | ------PATRGRALGQPCRVL-GP-H-SKP>C<VEMLKG------------------------ | 1724 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R1991Q | c.5972G>A | Inherited Arrhythmia | LQTS | rs199473336 | SIFT: tolerated Polyphen: benign |
| Reports | Inherited Arrhythmia | LQTS | Gene symbol: SCN5A. Hum Genet. 2007 120(6):911-2. 17438607 | ||
| 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 | Identification of Medically Actionable Secondary Findings in the 1000 Genomes. PLoS One. 2015 10(9):e0135193. doi: 10.1371/journal.pone.0135193. 26332594 | |||
| p.R1991W | c.5971C>T | Putative Benign | rs371308670 | SIFT: deleterious Polyphen: possibly damaging | |