No paralogue variants have been mapped to residue 659 for SCN5A.
SCN5A | TTTPSEEPGGPQMLTSQAPCVD-GFEEPGA>R<QR-A-LSAVSVLTSA----L-EELE-ESR- | 680 |
SCN1A | NGTTTETEMRKRRSSSFHVSMD-FLEDPSQ>R<QR-A-MSIASILTNT----V-EELE-ESR- | 731 |
SCN2A | -GTTTETEIRKRRSSSYHVSMD-LLEDPTS>R<QR-A-MSIASILTNT----M-EELE-ESR- | 722 |
SCN3A | -GTTTETEVRKRRLSSYQISME-MLEDSSG>R<QR-A-VSIASILTNT----M-EELE-ESR- | 723 |
SCN4A | -----------------------E---KGA>P<RQ-S-SSGDSGISDA----M-EELE-EAH- | 541 |
SCN7A | ---TIQIEMKKRSPISTDTSLD-VLEDATL>R<HK-------------------EELE-KSK- | 468 |
SCN8A | -A-TTEVEIKKKGPGSLLVSMD-QLASYGR>K<DR-I-NSIMSVVTNTL---V-EELE-ESQ- | 716 |
SCN9A | --TTNQIH-KKRRCSSYLLSED-MLNDPNL>R<QR-A-MSRASILTNT----V-EELE-ESR- | 696 |
SCN10A | AVDVSAFD---AGQKKTFLSAE-YLDEPFR>A<QR-A-MSVVSIITSV----L-EELE-ESE- | 628 |
SCN11A | ---------KRLSQNLSLDHFD-EHGDPLQ>R<QR-A-LSAVSILTIT----M-KEQE-KSQ- | 540 |
CACNA1A | --D----------LLNPEEAED-QLA---->D<IA-S-VG----------------------- | 450 |
CACNA1B | --D----------LIHAEEGED-RFA---->D<LC-A-VG----------------------- | 446 |
CACNA1C | --E----------SVNTENVAG-G-D---->I<EGEN-CG----------------------- | 490 |
CACNA1D | --E----------SVNTENVSG-EGE---->N<RG-C-CGSLWCWWR-------RRGA-AKA- | 504 |
CACNA1E | --E----------AMTRDSSDE-HCV---->D<IS-S-VG----------------------- | 439 |
CACNA1F | --T----------RS-THSTSSHASL---->P<-A-SDTGSMTETQG-------DEDE-EEG- | 490 |
CACNA1G | CLK----------ADSGACGPD-SCP---->Y<CA-R-AG-----AG-----EVELADREMP- | 686 |
CACNA1H | SPP----------AGTLTCELK-SCP---->Y<CT-R-AL-----ED-P---EGELSGSESG- | 720 |
CACNA1I | -------------------DPA-SCP---->C<CQ-H-ED-----GR-RPSGLGS---TDSGQ | 574 |
CACNA1S | --E----------SLY-EI----------->-<---------------------------AG- | 403 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R659Q | c.1976G>A | Putative Benign | rs374908012 | SIFT: deleterious Polyphen: probably damaging | |
p.R659W | c.1975C>T | Putative Benign | SIFT: Polyphen: |