No paralogue variants have been mapped to residue 581 for SCN5A.
SCN5A | HHTSLLVPWPL--RRT-SA---QGQPSPGT>S<A----P--GHALHGKKNSTV---------- | 595 |
SCN1A | RRDSLFVPRRHGERRN-----------SNL>S<Q----T--SRSSRMLAVFPAN----GKMHS | 643 |
SCN2A | RRDSLFVPHRHGERRH-----------SNV>S<Q----A--SRASRVLPILPMN----GKMHS | 646 |
SCN3A | RRDSLFVPHRHGERRN-----------SNV>S<Q----A--SMSSRMVPGLPAN----GKMHS | 646 |
SCN4A | ------------------------------>-<------------------PAH----GK--- | 504 |
SCN7A | ------------------------------>-<------------------------------ | |
SCN8A | RRDSLFIPIRARERRS------SYSGYSGY>S<Q----G--SRSSRIFPSLRRS----VKRNS | 641 |
SCN9A | RRGSLFVPHRPQERRS-----------SNI>S<Q----A--SRSP---PMLPVN----GKMHS | 620 |
SCN10A | HRGSLLLGGGAGQQG------------PLP>R<SPLPQP--SNP------D------------ | 561 |
SCN11A | ------------------------------>-<------------------------------ | |
CACNA1A | ------------------------------>-<------------------------------ | |
CACNA1B | ------------------------------>-<------------------------------ | |
CACNA1C | ------------------------------>-<------------------------------ | |
CACNA1D | ------------------------------>-<------------------------------ | |
CACNA1E | ------------------------------>-<------------------------------ | |
CACNA1F | ------------------------------>-<------------------------------ | |
CACNA1G | CHLEPVRCQAPP---PRSPSEASG-RTV-->G<S----G--KVYPTVHTSPPPETLKEKALVE | 609 |
CACNA1H | CHIEGPQERARVAHAAATA-AASL-R-LAT>G<L----GTMN-YPTILPSGVGSGKGSTSPGP | 632 |
CACNA1I | SPLDATPHTLVQPIPA-------------->-<------------------------------ | 544 |
CACNA1S | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S581L | c.1742C>T | Putative Benign | SIFT: Polyphen: |