Paralogue Annotation for SCN5A residue 661

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 661
Reference Amino Acid: R - Arginine
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to SCN5A residue 661

No paralogue variants have been mapped to residue 661 for SCN5A.



SCN5ATPSEEPGGPQMLTSQAPCVD-GFEEPGARQ>R<-A-LSAVSVLTSA----L-EELE-ESR---680
SCN1ATTTETEMRKRRSSSFHVSMD-FLEDPSQRQ>R<-A-MSIASILTNT----V-EELE-ESR---731
SCN2ATTTETEIRKRRSSSYHVSMD-LLEDPTSRQ>R<-A-MSIASILTNT----M-EELE-ESR---722
SCN3ATTTETEVRKRRLSSYQISME-MLEDSSGRQ>R<-A-VSIASILTNT----M-EELE-ESR---723
SCN4A---------------------E---KGAPR>Q<-S-SSGDSGISDA----M-EELE-EAH---541
SCN7A-TIQIEMKKRSPISTDTSLD-VLEDATLRH>K<-------------------EELE-KSK---468
SCN8A-TTEVEIKKKGPGSLLVSMD-QLASYGRKD>R<-I-NSIMSVVTNTL---V-EELE-ESQ---716
SCN9ATTNQIH-KKRRCSSYLLSED-MLNDPNLRQ>R<-A-MSRASILTNT----V-EELE-ESR---696
SCN10ADVSAFD---AGQKKTFLSAE-YLDEPFRAQ>R<-A-MSVVSIITSV----L-EELE-ESE---628
SCN11A-------KRLSQNLSLDHFD-EHGDPLQRQ>R<-A-LSAVSILTIT----M-KEQE-KSQ---540
CACNA1AD----------LLNPEEAED-QLA----DI>A<-S-VG-------------------------450
CACNA1BD----------LIHAEEGED-RFA----DL>C<-A-VG-------------------------446
CACNA1CE----------SVNTENVAG-G-D----IE>G<EN-CG-------------------------490
CACNA1DE----------SVNTENVSG-EGE----NR>G<-C-CGSLWCWWR-------RRGA-AKA---504
CACNA1EE----------AMTRDSSDE-HCV----DI>S<-S-VG-------------------------439
CACNA1FT----------RS-THSTSSHASL----P->A<-SDTGSMTETQG-------DEDE-EEG---490
CACNA1GK----------ADSGACGPD-SCP----YC>A<-R-AG-----AG-----EVELADREMP-DS688
CACNA1HP----------AGTLTCELK-SCP----YC>T<-R-AL-----ED-P---EGELSGSESG-DS722
CACNA1I-----------------DPA-SCP----CC>Q<-H-ED-----GR-RPSGLGS---TDSGQEG576
CACNA1SE----------SLY-EI------------->-<-------------------------AG---403
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R661Wc.1981C>T Inherited ArrhythmiaBrSSIFT: deleterious
Polyphen: probably damaging
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
Inherited ArrhythmiaBrS High prevalence of genetic variants previously associated with Brugada syndrome in new exome data. Clin Genet. 2013 23414114
p.R661Qc.1982G>A UnknownSIFT:
Polyphen:
ReportsUnknown Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart. 2015 101(4):294-301. doi: 10.1136/heartjnl-2014-306387. 25351510