No paralogue variants have been mapped to residue 975 for SCN5A.
| SCN5A | ------------------------------>R<TTWDFCC-----------GLLRQ-RPQKPA | 993 |
| SCN1A | ------------------------------>R<KIYEFIQ-----------QSFIR-KQKILD | 1046 |
| SCN2A | ------------------------------>R<KIREFIQ-----------KAFVR-KQKALD | 1037 |
| SCN3A | ------------------------------>N<KMRECFQ-----------KAFFR-KPKVI- | 1037 |
| SCN4A | ------------------------------>A<FLLGLLH-----------GKILS-PKDIML | 856 |
| SCN7A | ------------------------------>L<KILCKTQ-----------NVP-------KD | 776 |
| SCN8A | ------------------------------>L<KVHAFMQ-----------AHFKQ-R--EAD | 1029 |
| SCN9A | ------------------------------>Q<TLREFIL-----------KAFSK-KPKISR | 1011 |
| SCN10A | ---------------------------RTK>Q<ALCSFFS-----------RSCPFPQPKAEP | 945 |
| SCN11A | ------------------------------>H<TLEHFCH-----------KWCRK-Q-NLPQ | 865 |
| CACNA1A | NMS--------------IAVKEQQKNQKPA>K<SVWEQRTSEM--RKQNLLASREA-L----- | 794 |
| CACNA1B | NIS--------------IAA--RQQNSAKA>R<SVWEQRASQL--RLQNLRASCEA-L----- | 788 |
| CACNA1C | -------------------------P---->-<------------------------------ | 784 |
| CACNA1D | -------------------------L---->-<------------------------------ | 803 |
| CACNA1E | SIERDRRRRHHMSMWEPRSSHLRERRRRHH>M<SVWEQRTSQL--RKHMQMSSQEA-L----- | 797 |
| CACNA1F | -------------------------L---->-<------------------------------ | 789 |
| CACNA1G | -------ESE---------------PDFFS>P<SLDGDGDRKKCLALVSLGEHPEL-R----- | 1032 |
| CACNA1H | ------------------------------>-<RELQTTELKMCSLAVTPNGHLEG-R----- | 1069 |
| CACNA1I | ------------------------------>-<GLDSSGDPKLCPIPMTPNGHLDP-S----- | 917 |
| CACNA1S | -------------------------E---->-<------------------------------ | 695 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R975W | c.2923C>T | Inherited Arrhythmia | LQTS | rs41311135 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Spectrum and prevalence of cardiac sodium channel variants among black, white, Asian, and Hispanic individuals: implications for arrhythmogenic susceptibility and Brugada/long QT syndrome genetic testing. Heart Rhythm. 2004 1(5):600-7. 15851227 | ||
| Inherited Arrhythmia | LQTS | Contribution of long-QT syndrome genetic variants in sudden infant death syndrome. Pediatr Cardiol. 2009 30(4):502-9. 19322600 | |||
| 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.R975Q | c.2924G>A | Putative Benign | SIFT: Polyphen: | ||