No paralogue variants have been mapped to residue 1053 for SCN5A.
SCN5A | ---------------------PVCVPIAVA>E<SD------TDD------------QEED--- | 1062 |
SCN1A | ------------------PSLTVTVPIAVG>E<SD------FEN------------LNTE--- | 1130 |
SCN2A | ------------------PSLTVTVPIAVG>E<SD------FEN------------LNTE--- | 1120 |
SCN3A | ------------------PSLTVTVPIAVG>E<SD------FEN------------LNTE--- | 1118 |
SCN4A | ------------------PYLTIQVPIASE>E<SD------LEM------------PTEE--- | 939 |
SCN7A | ------------------PSVSETVPIASG>E<SD------IEN------------LDNK--- | 851 |
SCN8A | ------------------PNLTVRVPIAVG>E<SD------FEN------------LNTE--- | 1111 |
SCN9A | ------------------PSLTVTVPIAPG>E<SD------LEN------------MNAE--- | 1093 |
SCN10A | ------------------PTVWVSVPIAEG>E<SD------LDD------------LEDDGGE | 1015 |
SCN11A | ---------------------TWLAPLAEE>E<DD------VEF------------SGED--- | 932 |
CACNA1A | GEAERGKAGDPHRRHVHRQGGSRESRSGSP>R<TG------ADGEHRRHRAHRR--PGEEGP- | 970 |
CACNA1B | ARSERGR-------GPGPEGGRRHHRRGSP>E<EA------AEREPRRHRAHRH--QDPSKE- | 947 |
CACNA1C | ------------GESK-------------->-<-----------------EEKIELKSIT--- | 810 |
CACNA1D | ------------------------------>-<-----------------------NQIA--- | 817 |
CACNA1E | AVVTFED-----------RARHRQSQRRSR>H<RRVRTEGKESSSASRSRSASQERSLDEAM- | 952 |
CACNA1F | ------------------------------>-<------------------------------ | |
CACNA1G | -P-----------------SLKRRSPSGER>R<SL------LSG------------EGQESQ- | 1140 |
CACNA1H | -P-----------------SLKRRGQCGER>E<SL------LSG------------EGKGST- | 1175 |
CACNA1I | -P-----------------------PSAEH>E<SL------LSA------------ERGGGAR | 1016 |
CACNA1S | ------------------------------>-<-----------------------EQKP--- | 709 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E1053K | c.3157G>A | Inherited Arrhythmia | LQTS,BrS | rs137854617 | SIFT: tolerated Polyphen: benign |
Reports | Inherited Arrhythmia | BrS | Clinical and genetic heterogeneity of right bundle branch block and ST-segment elevation syndrome: A prospective evaluation of 52 families. Circulation. 2000 102(20):2509-15. 11076825 | ||
Inherited Arrhythmia | BrS | Natural history of Brugada syndrome: insights for risk stratification and management. Circulation. 2002 105(11):1342-7. 11901046 | |||
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 | |||
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 | |||
Inherited Arrhythmia | BrS | Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation. Circulation. 2008 117(15):1927-35. 18378609 | |||
Unknown | Nav1.5 E1053K mutation causing Brugada syndrome blocks binding to ankyrin-G and expression of Nav1.5 on the surface of cardiomyocytes. Proc Natl Acad Sci U S A. 2004 101(50):17533-8. 15579534 | ||||
Inherited Arrhythmia | BrS | Brugada syndrome disease phenotype explained in apparently benign sodium channel mutations. Circ Cardiovasc Genet. 2014 7(2):123-31. doi: 10.1161/CIRCGENETICS.113.000292. 24573164 |