Paralogue Annotation for SCN5A residue 1053

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1053
Reference Amino Acid: E - Glutamate
Protein Domain: Interdomain Linker II-III


Paralogue Variants mapped to SCN5A residue 1053

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------------LEDDGGE1015
SCN11A---------------------TWLAPLAEE>E<DD------VEF------------SGED---932
CACNA1AGEAERGKAGDPHRRHVHRQGGSRESRSGSP>R<TG------ADGEHRRHRAHRR--PGEEGP-970
CACNA1BARSERGR-------GPGPEGGRRHHRRGSP>E<EA------AEREPRRHRAHRH--QDPSKE-947
CACNA1C------------GESK-------------->-<-----------------EEKIELKSIT---810
CACNA1D------------------------------>-<-----------------------NQIA---817
CACNA1EAVVTFED-----------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------------ERGGGAR1016
CACNA1S------------------------------>-<-----------------------EQKP---709
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E1053Kc.3157G>A Inherited ArrhythmiaLQTS,BrSSIFT: tolerated
Polyphen: benign
ReportsInherited ArrhythmiaBrS 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 ArrhythmiaBrS Natural history of Brugada syndrome: insights for risk stratification and management. Circulation. 2002 105(11):1342-7. 11901046
Inherited ArrhythmiaLQTS 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 ArrhythmiaBrS 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 ArrhythmiaBrS 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 ArrhythmiaBrS 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