No paralogue variants have been mapped to residue 607 for SCN5A.
SCN5A | KKNSTV------------DCNGVVSLLG-A>G<D----PEAT-SPGSHLLRP----------- | 621 |
SCN1A | LAVFPAN----GKMHSTVDCNGVVSLVG-G>-<P----SVPT-SPVGQLLPE----------- | 670 |
SCN2A | LPILPMN----GKMHSAVDCNGVVSLVG-G>-<P----STLT-SA-GQLLPE----------- | 672 |
SCN3A | VPGLPAN----GKMHSTVDCNGVVSLVG-G>-<P----SALT-SPTGQLPPE----------- | 673 |
SCN4A | ----PAH----GK-----DCNGSLDTSQ-G>-<------------------------------ | 515 |
SCN7A | ------------------------------>-<------------------------------ | |
SCN8A | FPSLRRS----VKRNSTVDCNGVVSLIG-G>-<P----GSHI---GGRLLPE----------- | 666 |
SCN9A | -PMLPVN----GKMHSAVDCNGVVSLVD-G>-<R----SALM-LPNGQLLPE----------- | 647 |
SCN10A | ---D---------------------SRH-G>-<E----DEHQPPPT-SELAP----------- | 579 |
SCN11A | ------------------DCQKKPQLLE-Q>-<-----------------T------------ | 498 |
CACNA1A | ------------------------------>-<------------------------------ | |
CACNA1B | ------------------------------>-<------------------------------ | |
CACNA1C | ------------------------------>-<------------------------------ | |
CACNA1D | ------------------------------>-<------------------------------ | |
CACNA1E | ------------------------------>-<------------------------------ | |
CACNA1F | ------------------------------>-<------------------------------ | |
CACNA1G | HTSPPPETLKEKALVEVAASSGPPTLTSL->N<I----PPGPY-SSMHKLLETQSTGACQS-- | 646 |
CACNA1H | LPSGVGSGKGSTSPGPKGKWAGGPPGTGGH>G<PLSLNSPDPY-EKIPHVVGEHGLGQAPGHL | 676 |
CACNA1I | ------------------TLAS-------->-<------------------------------ | 548 |
CACNA1S | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G607V | c.1820G>T | Putative Benign | SIFT: Polyphen: | ||
p.G607D | c.1820G>A | Putative Benign | SIFT: Polyphen: |