Paralogue Annotation for SCN5A residue 579

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 579
Reference Amino Acid: G - Glycine
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to SCN5A residue 579

No paralogue variants have been mapped to residue 579 for SCN5A.



SCN5AESHHTSLLVPWPL--RRT-SA---QGQPSP>G<TSA----P--GHALHGKKNSTV--------595
SCN1AESRRDSLFVPRRHGERRN-----------S>N<LSQ----T--SRSSRMLAVFPAN----GKM641
SCN2ADSRRDSLFVPHRHGERRH-----------S>N<VSQ----A--SRASRVLPILPMN----GKM644
SCN3AESRRDSLFVPHRHGERRN-----------S>N<VSQ----A--SMSSRMVPGLPAN----GKM644
SCN4A------------------------------>-<--------------------PAH----GK-504
SCN7A------------------------------>-<------------------------------
SCN8AEGRRDSLFIPIRARERRS------SYSGYS>G<YSQ----G--SRSSRIFPSLRRS----VKR639
SCN9AESRRGSLFVPHRPQERRS-----------S>N<ISQ----A--SRSP---PMLPVN----GKM618
SCN10AESHRGSLLLGGGAGQQG------------P>L<PRSPLPQP--SNP------D----------561
SCN11A------------------------------>-<------------------------------
CACNA1A------------------------------>-<------------------------------
CACNA1B------------------------------>-<------------------------------
CACNA1C------------------------------>-<------------------------------
CACNA1D------------------------------>-<------------------------------
CACNA1E------------------------------>-<------------------------------
CACNA1F------------------------------>-<------------------------------
CACNA1GADCHLEPVRCQAPP---PRSPSEASG-RTV>-<-GS----G--KVYPTVHTSPPPETLKEKAL607
CACNA1HADCHIEGPQERARVAHAAATA-AASL-R-L>A<TGL----GTMN-YPTILPSGVGSGKGSTSP630
CACNA1IQHSPLDATPHTLVQPIPA------------>-<------------------------------544
CACNA1S------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.G579Rc.1735G>A Inherited ArrhythmiaLQTSrs199473128SIFT: tolerated
Polyphen: benign
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
Inherited ArrhythmiaLQTS Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. JAMA. 2005 294(23):2975-80. 16414944
Putative Benign Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300