No paralogue variants have been mapped to residue 571 for SCN5A.
SCN5A | ADDENSTAGESESHHTSLLVPWPL--RRT->S<A---QGQPSPGTSA----P--GHALHGKKN | 592 |
SCN1A | ADDEHSTFEDNESRRDSLFVPRRHGERRN->-<---------SNLSQ----T--SRSSRMLAV | 634 |
SCN2A | ADDEHSTFEDNDSRRDSLFVPHRHGERRH->-<---------SNVSQ----A--SRASRVLPI | 637 |
SCN3A | ADDEHSTFEDSESRRDSLFVPHRHGERRN->-<---------SNVSQ----A--SMSSRMVPG | 637 |
SCN4A | ------------------------------>-<------------------------------ | |
SCN7A | ------------------------------>-<------------------------------ | |
SCN8A | ADDEHSTVEESEGRRDSLFIPIRARERRS->-<----SYSGYSGYSQ----G--SRSSRIFPS | 632 |
SCN9A | ADDEHSIFGDNESRRGSLFVPHRPQERRS->-<---------SNISQ----A--SRSP---PM | 611 |
SCN10A | TDDG-VFPGDHESHRGSLLLGGGAGQQG-->-<---------PLPRSPLPQP--SNP------ | 560 |
SCN11A | ------------------------------>-<------------------------------ | |
CACNA1A | ------------------------------>-<------------------------------ | |
CACNA1B | ------------------------------>-<------------------------------ | |
CACNA1C | ------------------------------>-<------------------------------ | |
CACNA1D | ------------------------------>-<------------------------------ | |
CACNA1E | ------------------------------>-<------------------------------ | |
CACNA1F | ------------------------------>-<------------------------------ | |
CACNA1G | GGAESVHSFYHADCHLEPVRCQAPP---PR>S<PSEASG-RTV--GS----G--KVYPTVHTS | 596 |
CACNA1H | D-AESVHSIYHADCHIEGPQERARVAHAAA>T<A-AASL-R-LATGL----GTMN-YPTILPS | 619 |
CACNA1I | GNDHSGRELCPQHSPLDATPHTLVQPIPA->-<------------------------------ | 544 |
CACNA1S | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S571I | c.1712G>T | Inherited Arrhythmia | LQTS | rs199473126 | SIFT: deleterious Polyphen: probably damaging |
Reports | Inherited Arrhythmia | LQTS | Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085 |