Paralogue Annotation for SCN5A residue 1079

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1079
Reference Amino Acid: S - Serine
Protein Domain: Interdomain Linker II-III


Paralogue Variants mapped to SCN5A residue 1079

No paralogue variants have been mapped to residue 1079 for SCN5A.



SCN5A-EENSLGTEEE-------------SSKQQE>S<QPVS--------------------------1083
SCN1A-DFSSESDLEE-------------SK---E>-<------------------------------1143
SCN2A-EFSSESDMEE-------------SK---E>-<------------------------------1133
SCN3A-EFSSESELEE-------------SK---E>-<------------------------------1131
SCN4A-ETDTFSEPED-------------SKKPPQ>-<------------------------------955
SCN7A-EIQSKSGDGG-------------SK---E>-<------------------------------864
SCN8A-DVSSESDPEG-------------SK---D>-<------------------------------1124
SCN9A-ELSSDSDSEY-------------SK---V>-<------------------------------1106
SCN10A-TWKDESVPQV-------------PA---E>-<------------------------------1076
SCN11A-NAQRITQPEP-------------EQQAYE>L<------------------------------949
CACNA1A----------------RHGAPATYEGDARR>E<DKERRHRRRKENQGSGVPVSGPNLSTTRPI1051
CACNA1B----------------RARHKAQPAHEAVE>K<ETT---------------------------998
CACNA1C--TGEEDEEEP------------------->-<------------------------------851
CACNA1DEEEEEEEEDEP------------------->-<------------------------------857
CACNA1E--VLPHPELEVGKHVVLTEQEPEGSSEQAL>L<GNVQLD------------------------1041
CACNA1FEEEEEEEEEEE------------------->-<------------------------------822
CACNA1G--DGDDADDEG------------------->-<------------------------------1228
CACNA1H--DAAELDDDS------------------->-<------------------------------1246
CACNA1I--DRGEDEEEI------------------->-<------------------------------1122
CACNA1S--PGDDEEDEP------------------->-<------------------------------750
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.S1079Fc.3236C>T Inherited ArrhythmiaLQTSSIFT: tolerated
Polyphen: benign
ReportsInherited ArrhythmiaLQTS Long QT syndrome with compound mutations is associated with a more severe phenotype: a Japanese multicenter study. Heart Rhythm. 2010 7(10):1411-8. 20541041
p.S1079Yc.3236C>A Inherited ArrhythmiaBrSSIFT: deleterious
Polyphen: benign
ReportsInherited 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
p.S1079Tc.3235T>A Putative BenignSIFT: tolerated
Polyphen: benign