Paralogue Annotation for SCN5A residue 627

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 627
Reference Amino Acid: P - Proline
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to SCN5A residue 627

No paralogue variants have been mapped to residue 627 for SCN5A.



SCN5AAT-SPGSHLLRP-------------VMLEH>P<P--DTTTPSEEPGGPQMLTSQAPCVD-GFE654
SCN1APT-SPVGQLLPE-------------VIIDK>P<ATDDNGTTTETEMRKRRSSSFHVSMD-FLE705
SCN2ALT-SA-GQLLPE------------------>-<-----GTTTETEIRKRRSSSYHVSMD-LLE696
SCN3ALT-SPTGQLPPE------------------>-<-----GTTTETEVRKRRLSSYQISME-MLE697
SCN4A------------------------------>-<---------------------------E--516
SCN7A------------------------------>-<-------TIQIEMKKRSPISTDTSLD-VLE454
SCN8AHI---GGRLLPE------------------>-<-----A-TTEVEIKKKGPGSLLVSMD-QLA689
SCN9ALM-LPNGQLLPE-------------G---->-<------TTNQIH-KKRRCSSYLLSED-MLN670
SCN10AHQPPPT-SELAP------------------>-<---GAVDVSAFD---AGQKKTFLSAE-YLD602
SCN11A----------T------------------->-<-------------KRLSQNLSLDHFD-EHG514
CACNA1A------------------------------>-<------D----------LLNPEEAED-QLA444
CACNA1B------------------------------>-<------D----------LIHAEEGED-RFA440
CACNA1C------------------------------>-<------E----------SVNTENVAG-G-D483
CACNA1D------------------------------>-<------E----------SVNTENVSG-EGE484
CACNA1E------------------------------>-<------E----------AMTRDSSDE-HCV433
CACNA1F------------------------------>-<------T----------RS-THSTSSHASL470
CACNA1GGPY-SSMHKLLETQSTGACQS-----SC-->K<ISSPCLK----------ADSGACGPD-SCP668
CACNA1HDPY-EKIPHVVGEHGLGQAPGHLSGLSV-->P<CPLPSPP----------AGTLTCELK-SCP701
CACNA1I------------------------------>-<-----------------------DPA-SCP554
CACNA1S------------------------------>-<------E----------SLY-EI-------401
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.P627Lc.1880C>T Inherited ArrhythmiaLQTSSIFT: tolerated
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Congenital long QT 3 in the pediatric population. Am J Cardiol. 2012 109(10):1459-65. doi: 10.1016/j.amjcard.2012.01.36 22360817