No paralogue variants have been mapped to residue 543 for SCN5A.
SCN5A | -FRR-----R-DLG-----SEA-------D>F<ADDENSTAGESESHHTSLLVPWPL--RRT- | 570 |
SCN1A | -FRG---RAK-DVG-----SEN-------D>F<ADDEHSTFEDNESRRDSLFVPRRHGERRN- | 619 |
SCN2A | -FRG---RAK-DIG-----SEN-------D>F<ADDEHSTFEDNDSRRDSLFVPHRHGERRH- | 622 |
SCN3A | -FRG---RAK-DVG-----SEN-------D>F<ADDEHSTFEDSESRRDSLFVPHRHGERRN- | 622 |
SCN4A | ------------------------------>-<------------------------------ | |
SCN7A | ------------------------------>-<------------------------------ | |
SCN8A | -FRGPG-RFR-DPG-----SEN-------E>F<ADDEHSTVEESEGRRDSLFIPIRARERRS- | 612 |
SCN9A | -FKG---RGR-DIG-----SET-------E>F<ADDEHSIFGDNESRRGSLFVPHRPQERRS- | 599 |
SCN10A | -FRS---PGR-DIS-----LPE-------G>V<TDDG-VFPGDHESHRGSLLLGGGAGQQG-- | 547 |
SCN11A | ------------------------------>-<------------------------------ | |
CACNA1A | -TTI---K-K---------SKT-------->-<------------------------------ | 431 |
CACNA1B | -AAT---K-K---------SRN-------->-<------------------------------ | 427 |
CACNA1C | -MSM---P-----T-----SET-------->-<------------------------------ | 471 |
CACNA1D | -TSM---P-----T-----SET-------->-<------------------------------ | 471 |
CACNA1E | -ATI---K-R---------SRT-------->-<------------------------------ | 420 |
CACNA1F | -AEL---T-NRRRGRLRWFSHS-------->-<------------------------------ | 457 |
CACNA1G | GSRRLMLP-P---------PS-TPALSGAP>P<GGAESVHSFYHADCHLEPVRCQAPP---PR | 574 |
CACNA1H | R-----AG-A---------PPSPPSPGRGP>P<D-AESVHSIYHADCHIEGPQERARVAHAAA | 596 |
CACNA1I | --------------------A--------S>P<GNDHSGRELCPQHSPLDATPHTLVQPIPA- | 544 |
CACNA1S | -LDE---G-----G-----SDT-------->-<------------------------------ | 395 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.F543L | c.1629T>A | Inherited Arrhythmia | BrS | rs199473122 | SIFT: deleterious Polyphen: probably damaging |
Reports | Inherited Arrhythmia | BrS | 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 |