Paralogue Annotation for SCN5A residue 630

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 630
Reference Amino Acid: T - Threonine
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to SCN5A residue 630

No paralogue variants have been mapped to residue 630 for SCN5A.



SCN5AGSHLLRP-------------VMLEHPP--D>T<TTPSEEPGGPQMLTSQAPCVD-GFEEPGAR659
SCN1AVGQLLPE-------------VIIDKPATDD>N<GTTTETEMRKRRSSSFHVSMD-FLEDPSQR710
SCN2A-GQLLPE----------------------->-<GTTTETEIRKRRSSSYHVSMD-LLEDPTSR701
SCN3ATGQLPPE----------------------->-<GTTTETEVRKRRLSSYQISME-MLEDSSGR702
SCN4A------------------------------>-<----------------------E---KGAP520
SCN7A------------------------------>-<--TIQIEMKKRSPISTDTSLD-VLEDATLR459
SCN8AGGRLLPE----------------------->-<A-TTEVEIKKKGPGSLLVSMD-QLASYGRK694
SCN9ANGQLLPE-------------G--------->-<-TTNQIH-KKRRCSSYLLSED-MLNDPNLR675
SCN10AT-SELAP----------------------G>A<VDVSAFD---AGQKKTFLSAE-YLDEPFRA607
SCN11A-----T------------------------>-<--------KRLSQNLSLDHFD-EHGDPLQR519
CACNA1A------------------------------>-<-D----------LLNPEEAED-QLA----D445
CACNA1B------------------------------>-<-D----------LIHAEEGED-RFA----D441
CACNA1C------------------------------>-<-E----------SVNTENVAG-G-D----I484
CACNA1D------------------------------>-<-E----------SVNTENVSG-EGE----N485
CACNA1E------------------------------>-<-E----------AMTRDSSDE-HCV----D434
CACNA1F------------------------------>-<-T----------RS-THSTSSHASL----P471
CACNA1GSMHKLLETQSTGACQS-----SC--KISSP>C<LK----------ADSGACGPD-SCP----Y669
CACNA1HKIPHVVGEHGLGQAPGHLSGLSV--PCPLP>S<PP----------AGTLTCELK-SCP----Y702
CACNA1I------------------------------>-<------------------DPA-SCP----C555
CACNA1S------------------------------>-<-E----------SLY-EI------------401
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.T630Mc.1889C>T Other Disease PhenotypeSIFT:
Polyphen:
ReportsOther Disease Phenotype Loss-of-function of the voltage-gated sodium channel NaV1.5 (channelopathies) in patients with irritable bowel syndrome. Gastroenterology. 2014 146(7):1659-68. doi: 10.1053/j.gastro.2014.02.054. 24613995