Paralogue Annotation for SCN5A residue 601

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 601
Reference Amino Acid: V - Valine
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to SCN5A residue 601

No paralogue variants have been mapped to residue 601 for SCN5A.



SCN5A-GHALHGKKNSTV------------DCNGV>V<SLLG-AGD----PEAT-SPGSHLLRP----621
SCN1A-SRSSRMLAVFPAN----GKMHSTVDCNGV>V<SLVG-G-P----SVPT-SPVGQLLPE----670
SCN2A-SRASRVLPILPMN----GKMHSAVDCNGV>V<SLVG-G-P----STLT-SA-GQLLPE----672
SCN3A-SMSSRMVPGLPAN----GKMHSTVDCNGV>V<SLVG-G-P----SALT-SPTGQLPPE----673
SCN4A-----------PAH----GK-----DCNGS>L<DTSQ-G------------------------515
SCN7A------------------------------>-<------------------------------
SCN8A-SRSSRIFPSLRRS----VKRNSTVDCNGV>V<SLIG-G-P----GSHI---GGRLLPE----666
SCN9A-SRSP---PMLPVN----GKMHSAVDCNGV>V<SLVD-G-R----SALM-LPNGQLLPE----647
SCN10A-SNP------D------------------->-<-SRH-G-E----DEHQPPPT-SELAP----579
SCN11A-------------------------DCQKK>P<QLLE-Q------------------T-----498
CACNA1A------------------------------>-<------------------------------
CACNA1B------------------------------>-<------------------------------
CACNA1C------------------------------>-<------------------------------
CACNA1D------------------------------>-<------------------------------
CACNA1E------------------------------>-<------------------------------
CACNA1F------------------------------>-<------------------------------
CACNA1G-KVYPTVHTSPPPETLKEKALVEVAASSGP>P<TLTSL-NI----PPGPY-SSMHKLLETQST641
CACNA1HMN-YPTILPSGVGSGKGSTSPGPKGKWAGG>P<PGTGGHGPLSLNSPDPY-EKIPHVVGEHGL669
CACNA1I-------------------------TLAS->-<------------------------------548
CACNA1S------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V601Ac.1802T>C Putative Benignrs199473132SIFT: tolerated
Polyphen: possibly damaging
ReportsPutative Benign Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300
Putative 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