Paralogue Annotation for SCN5A residue 568

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 568
Reference Amino Acid: R - Arginine
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to SCN5A residue 568

No paralogue variants have been mapped to residue 568 for SCN5A.



SCN5A--DFADDENSTAGESESHHTSLLVPWPL-->R<RT-SA---QGQPSPGTSA----P--GHALH588
SCN1A--DFADDEHSTFEDNESRRDSLFVPRRHGE>R<RN-----------SNLSQ----T--SRSSR630
SCN2A--DFADDEHSTFEDNDSRRDSLFVPHRHGE>R<RH-----------SNVSQ----A--SRASR633
SCN3A--DFADDEHSTFEDSESRRDSLFVPHRHGE>R<RN-----------SNVSQ----A--SMSSR633
SCN4A------------------------------>-<------------------------------
SCN7A------------------------------>-<------------------------------
SCN8A--EFADDEHSTVEESEGRRDSLFIPIRARE>R<RS------SYSGYSGYSQ----G--SRSSR628
SCN9A--EFADDEHSIFGDNESRRGSLFVPHRPQE>R<RS-----------SNISQ----A--SRSP-609
SCN10A--GVTDDG-VFPGDHESHRGSLLLGGGAGQ>Q<G------------PLPRSPLPQP--SNP--560
SCN11A------------------------------>-<------------------------------
CACNA1A------------------------------>-<------------------------------
CACNA1B------------------------------>-<------------------------------
CACNA1C------------------------------>-<------------------------------
CACNA1D------------------------------>-<------------------------------
CACNA1E------------------------------>-<------------------------------
CACNA1F------------------------------>-<------------------------------
CACNA1GGAPPGGAESVHSFYHADCHLEPVRCQAPP->-<-PRSPSEASG-RTV--GS----G--KVYPT592
CACNA1HRGPPD-AESVHSIYHADCHIEGPQERARVA>H<AAATA-AASL-R-LATGL----GTMN-YPT615
CACNA1I--SPGNDHSGRELCPQHSPLDATPHTLVQP>I<PA----------------------------544
CACNA1S------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R568Cc.1702C>T Putative Benignrs45600438SIFT: deleterious
Polyphen: probably damaging
p.R568Hc.1703G>A Inherited Arrhythmiars199473125SIFT: deleterious
Polyphen: probably damaging
ReportsPutative Benign 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
Putative Benign Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300
Inherited ArrhythmiaLQTS Electrophysiological characterization of a large set of novel variants in the SCN5A-gene: identification of novel LQTS3 and BrS mutations. Pflugers Arch. 2016 468(8):1375-87. doi: 10.1007/s00424-016-1844-3. 27287068