Paralogue Annotation for SCN5A residue 571

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 571
Reference Amino Acid: S - Serine
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to SCN5A residue 571

No paralogue variants have been mapped to residue 571 for SCN5A.



SCN5AADDENSTAGESESHHTSLLVPWPL--RRT->S<A---QGQPSPGTSA----P--GHALHGKKN592
SCN1AADDEHSTFEDNESRRDSLFVPRRHGERRN->-<---------SNLSQ----T--SRSSRMLAV634
SCN2AADDEHSTFEDNDSRRDSLFVPHRHGERRH->-<---------SNVSQ----A--SRASRVLPI637
SCN3AADDEHSTFEDSESRRDSLFVPHRHGERRN->-<---------SNVSQ----A--SMSSRMVPG637
SCN4A------------------------------>-<------------------------------
SCN7A------------------------------>-<------------------------------
SCN8AADDEHSTVEESEGRRDSLFIPIRARERRS->-<----SYSGYSGYSQ----G--SRSSRIFPS632
SCN9AADDEHSIFGDNESRRGSLFVPHRPQERRS->-<---------SNISQ----A--SRSP---PM611
SCN10ATDDG-VFPGDHESHRGSLLLGGGAGQQG-->-<---------PLPRSPLPQP--SNP------560
SCN11A------------------------------>-<------------------------------
CACNA1A------------------------------>-<------------------------------
CACNA1B------------------------------>-<------------------------------
CACNA1C------------------------------>-<------------------------------
CACNA1D------------------------------>-<------------------------------
CACNA1E------------------------------>-<------------------------------
CACNA1F------------------------------>-<------------------------------
CACNA1GGGAESVHSFYHADCHLEPVRCQAPP---PR>S<PSEASG-RTV--GS----G--KVYPTVHTS596
CACNA1HD-AESVHSIYHADCHIEGPQERARVAHAAA>T<A-AASL-R-LATGL----GTMN-YPTILPS619
CACNA1IGNDHSGRELCPQHSPLDATPHTLVQPIPA->-<------------------------------544
CACNA1S------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.S571Ic.1712G>T Inherited ArrhythmiaLQTSrs199473126SIFT: deleterious
Polyphen: probably damaging
ReportsInherited 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