No paralogue variants have been mapped to residue 599 for SCN5A.
| SCN5A | P--GHALHGKKNSTV------------DCN>G<VVSLLG-AGD----PEAT-SPGSHLLRP-- | 621 |
| SCN1A | T--SRSSRMLAVFPAN----GKMHSTVDCN>G<VVSLVG-G-P----SVPT-SPVGQLLPE-- | 670 |
| SCN2A | A--SRASRVLPILPMN----GKMHSAVDCN>G<VVSLVG-G-P----STLT-SA-GQLLPE-- | 672 |
| SCN3A | A--SMSSRMVPGLPAN----GKMHSTVDCN>G<VVSLVG-G-P----SALT-SPTGQLPPE-- | 673 |
| SCN4A | -------------PAH----GK-----DCN>G<SLDTSQ-G---------------------- | 515 |
| SCN7A | ------------------------------>-<------------------------------ | |
| SCN8A | G--SRSSRIFPSLRRS----VKRNSTVDCN>G<VVSLIG-G-P----GSHI---GGRLLPE-- | 666 |
| SCN9A | A--SRSP---PMLPVN----GKMHSAVDCN>G<VVSLVD-G-R----SALM-LPNGQLLPE-- | 647 |
| SCN10A | P--SNP------D----------------->-<---SRH-G-E----DEHQPPPT-SELAP-- | 579 |
| SCN11A | ---------------------------DCQ>K<KPQLLE-Q------------------T--- | 498 |
| CACNA1A | ------------------------------>-<------------------------------ | |
| CACNA1B | ------------------------------>-<------------------------------ | |
| CACNA1C | ------------------------------>-<------------------------------ | |
| CACNA1D | ------------------------------>-<------------------------------ | |
| CACNA1E | ------------------------------>-<------------------------------ | |
| CACNA1F | ------------------------------>-<------------------------------ | |
| CACNA1G | G--KVYPTVHTSPPPETLKEKALVEVAASS>G<PPTLTSL-NI----PPGPY-SSMHKLLETQ | 639 |
| CACNA1H | GTMN-YPTILPSGVGSGKGSTSPGPKGKWA>G<GPPGTGGHGPLSLNSPDPY-EKIPHVVGEH | 667 |
| CACNA1I | ---------------------------TLA>S<------------------------------ | 548 |
| CACNA1S | ------------------------------>-<------------------------------ | |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.G599R | c.1795G>A | Putative Benign | SIFT: Polyphen: |