Paralogue Annotation for SCN5A residue 654

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 654
Reference Amino Acid: E - Glutamate
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to SCN5A residue 654

No paralogue variants have been mapped to residue 654 for SCN5A.



SCN5APP--DTTTPSEEPGGPQMLTSQAPCVD-GF>E<EPGARQR-A-LSAVSVLTSA----L-EELE677
SCN1APATDDNGTTTETEMRKRRSSSFHVSMD-FL>E<DPSQRQR-A-MSIASILTNT----V-EELE728
SCN2A------GTTTETEIRKRRSSSYHVSMD-LL>E<DPTSRQR-A-MSIASILTNT----M-EELE719
SCN3A------GTTTETEVRKRRLSSYQISME-ML>E<DSSGRQR-A-VSIASILTNT----M-EELE720
SCN4A----------------------------E->-<-KGAPRQ-S-SSGDSGISDA----M-EELE538
SCN7A--------TIQIEMKKRSPISTDTSLD-VL>E<DATLRHK-------------------EELE465
SCN8A------A-TTEVEIKKKGPGSLLVSMD-QL>A<SYGRKDR-I-NSIMSVVTNTL---V-EELE713
SCN9A-------TTNQIH-KKRRCSSYLLSED-ML>N<DPNLRQR-A-MSRASILTNT----V-EELE693
SCN10A----GAVDVSAFD---AGQKKTFLSAE-YL>D<EPFRAQR-A-MSVVSIITSV----L-EELE625
SCN11A--------------KRLSQNLSLDHFD-EH>G<DPLQRQR-A-LSAVSILTIT----M-KEQE537
CACNA1A-------D----------LLNPEEAED-QL>A<----DIA-S-VG------------------450
CACNA1B-------D----------LIHAEEGED-RF>A<----DLC-A-VG------------------446
CACNA1C-------E----------SVNTENVAG-G->D<----IEGEN-CG------------------490
CACNA1D-------E----------SVNTENVSG-EG>E<----NRG-C-CGSLWCWWR-------RRGA501
CACNA1E-------E----------AMTRDSSDE-HC>V<----DIS-S-VG------------------439
CACNA1F-------T----------RS-THSTSSHAS>L<----P-A-SDTGSMTETQG-------DEDE487
CACNA1GKISSPCLK----------ADSGACGPD-SC>P<----YCA-R-AG-----AG-----EVELAD682
CACNA1HPCPLPSPP----------AGTLTCELK-SC>P<----YCT-R-AL-----ED-P---EGELSG716
CACNA1I------------------------DPA-SC>P<----CCQ-H-ED-----GR-RPSGLGS---569
CACNA1S-------E----------SLY-EI------>-<------------------------------401
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E654Kc.1960G>A Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: benign
ReportsInherited ArrhythmiaLQTS Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085