No paralogue variants have been mapped to residue 661 for SCN5A.
SCN5A | TPSEEPGGPQMLTSQAPCVD-GFEEPGARQ>R<-A-LSAVSVLTSA----L-EELE-ESR--- | 680 |
SCN1A | TTTETEMRKRRSSSFHVSMD-FLEDPSQRQ>R<-A-MSIASILTNT----V-EELE-ESR--- | 731 |
SCN2A | TTTETEIRKRRSSSYHVSMD-LLEDPTSRQ>R<-A-MSIASILTNT----M-EELE-ESR--- | 722 |
SCN3A | TTTETEVRKRRLSSYQISME-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 |
SCN9A | TTNQIH-KKRRCSSYLLSED-MLNDPNLRQ>R<-A-MSRASILTNT----V-EELE-ESR--- | 696 |
SCN10A | DVSAFD---AGQKKTFLSAE-YLDEPFRAQ>R<-A-MSVVSIITSV----L-EELE-ESE--- | 628 |
SCN11A | -------KRLSQNLSLDHFD-EHGDPLQRQ>R<-A-LSAVSILTIT----M-KEQE-KSQ--- | 540 |
CACNA1A | D----------LLNPEEAED-QLA----DI>A<-S-VG------------------------- | 450 |
CACNA1B | D----------LIHAEEGED-RFA----DL>C<-A-VG------------------------- | 446 |
CACNA1C | E----------SVNTENVAG-G-D----IE>G<EN-CG------------------------- | 490 |
CACNA1D | E----------SVNTENVSG-EGE----NR>G<-C-CGSLWCWWR-------RRGA-AKA--- | 504 |
CACNA1E | E----------AMTRDSSDE-HCV----DI>S<-S-VG------------------------- | 439 |
CACNA1F | T----------RS-THSTSSHASL----P->A<-SDTGSMTETQG-------DEDE-EEG--- | 490 |
CACNA1G | K----------ADSGACGPD-SCP----YC>A<-R-AG-----AG-----EVELADREMP-DS | 688 |
CACNA1H | P----------AGTLTCELK-SCP----YC>T<-R-AL-----ED-P---EGELSGSESG-DS | 722 |
CACNA1I | -----------------DPA-SCP----CC>Q<-H-ED-----GR-RPSGLGS---TDSGQEG | 576 |
CACNA1S | E----------SLY-EI------------->-<-------------------------AG--- | 403 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R661W | c.1981C>T | Inherited Arrhythmia | BrS | rs199473139 | SIFT: deleterious Polyphen: probably damaging |
Reports | Inherited Arrhythmia | BrS | 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 Arrhythmia | BrS | High prevalence of genetic variants previously associated with Brugada syndrome in new exome data. Clin Genet. 2013 23414114 | |||
p.R661Q | c.1982G>A | Unknown | SIFT: Polyphen: | ||
Reports | Unknown | 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 |