Paralogue Annotation for SCN5A residue 1074

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1074
Reference Amino Acid: S - Serine
Protein Domain: Interdomain Linker II-III


Paralogue Variants mapped to SCN5A residue 1074

No paralogue variants have been mapped to residue 1074 for SCN5A.



SCN5A------EENSLGTEEE-------------S>S<KQQESQPVS---------------------1083
SCN1A------DFSSESDLEE-------------S>K<---E--------------------------1143
SCN2A------EFSSESDMEE-------------S>K<---E--------------------------1133
SCN3A------EFSSESELEE-------------S>K<---E--------------------------1131
SCN4A------ETDTFSEPED-------------S>K<KPPQ--------------------------955
SCN7A------EIQSKSGDGG-------------S>K<---E--------------------------864
SCN8A------DVSSESDPEG-------------S>K<---D--------------------------1124
SCN9A------ELSSDSDSEY-------------S>K<---V--------------------------1106
SCN10AE-----TWKDESVPQV-------------P>A<---E--------------------------1076
SCN11A------NAQRITQPEP-------------E>Q<QAYEL-------------------------949
CACNA1A---------------------RHGAPATYE>G<DARREDKERRHRRRKENQGSGVPVSGPNLS1046
CACNA1B---------------------RARHKAQPA>H<EAVEKETT----------------------998
CACNA1CET-----TGEEDEEEP-------------->-<------------------------------851
CACNA1DDVPVGEEEEEEEEDEP-------------->-<------------------------------857
CACNA1EPL-----VLPHPELEVGKHVVLTEQEPEGS>S<EQALLGNVQLD-------------------1041
CACNA1FDMEEEEEEEEEEEEEE-------------->-<------------------------------822
CACNA1GPL-----DGDDADDEG-------------->-<------------------------------1228
CACNA1HRE-----DAAELDDDS-------------->-<------------------------------1246
CACNA1IRG-----DRGEDEEEI-------------->-<------------------------------1122
CACNA1SDF-----PGDDEEDEP-------------->-<------------------------------750
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.S1074Rc.3222C>A Inherited ArrhythmiaLQTSSIFT:
Polyphen:
ReportsInherited ArrhythmiaLQTS Mutational analysis of SCN5A gene in long QT syndrome. Meta Gene. 2015 6:26-35. doi: 10.1016/j.mgene.2015.07.010. eCollec 26401487