No paralogue variants have been mapped to residue 1987 for SCN5A.
| SCN5A | ------------------------RA-TSD>N<-LQVRG------------------------ | 1992 |
| SCN1A | ------------------------KP-IVE>K<-HE--------------------------- | 1998 |
| SCN2A | ------------------------KP-EKE>K<-FE--------------------------- | 1987 |
| SCN3A | ------------------------KP-DKE>K<-FE--------------------------- | 1982 |
| SCN4A | ------------------------IS-PSD>T<AWP--------------------------- | 1818 |
| SCN7A | ------------------------------>K<------------------------------ | 1675 |
| SCN8A | ------------------------KP-EKE>K<-QQRAE------------------------ | 1962 |
| SCN9A | ------------------------KP-DKE>K<-YE--------------------------- | 1959 |
| SCN10A | ------------------------RG-LSD>R<-VNMRT------------------------ | 1936 |
| SCN11A | ------------------------SF-GVA>K<------------------------------ | 1785 |
| CACNA1A | ---------GTDLSMTTQSGDLP------S>K<-ERDQERGRPKDR----------------- | 2206 |
| CACNA1B | ---------SSAVGPGLPPGEGPTGC-RRE>R<-ERRQERGRSQERRQPSSSSS----EKQRF | 2128 |
| CACNA1C | -TLPEEDKRDIRQSPKRGFLRSA-SL-GR->R<-ASFHLECLKRQKDRGGDIS-----Q---- | 1916 |
| CACNA1D | EDDDSPVCYDSRRSPRRRLLPPT-PASHR->R<-SSFNFECLRRQSSQEEVPSSPIFPH---- | 1965 |
| CACNA1E | ---------KSDT----------------H>R<-SGGRERGRSKERKHLLSPDV----SRCN- | 2101 |
| CACNA1F | -PHRAQRYMDGHLVPRRRLLPPT-PA-GR->K<-PSFTIQCLQRQGSCEDLPIPGTY------ | 1823 |
| CACNA1G | -HSR------SHSKISKHMTPPA-PCPGP->E<-PNWGKGPPETRSSLELDTE---------- | 2220 |
| CACNA1H | ----------------------G-PEASP->V<-AGGE------------------------- | 2129 |
| CACNA1I | ---------------RRALGPPA-PAPGP->R<-AGLS------------------------- | 2060 |
| CACNA1S | -----------PATRGRALGQPCRVL-GP->H<-SKPCVEMLKG------------------- | 1724 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.N1987K | c.5961C>A | Inherited Arrhythmia | AF | rs199473335 | SIFT: tolerated Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | AF | Cardiac sodium channel mutation in atrial fibrillation. Heart Rhythm. 2008 5(1):99-105. 18088563 | ||
| 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 | ||||