No paralogue variants have been mapped to residue 658 for SCN5A.
SCN5A | DTTTPSEEPGGPQMLTSQAPCVD-GFEEPG>A<RQR-A-LSAVSVLTSA----L-EELE-ESR | 680 |
SCN1A | DNGTTTETEMRKRRSSSFHVSMD-FLEDPS>Q<RQR-A-MSIASILTNT----V-EELE-ESR | 731 |
SCN2A | --GTTTETEIRKRRSSSYHVSMD-LLEDPT>S<RQR-A-MSIASILTNT----M-EELE-ESR | 722 |
SCN3A | --GTTTETEVRKRRLSSYQISME-MLEDSS>G<RQR-A-VSIASILTNT----M-EELE-ESR | 723 |
SCN4A | ------------------------E---KG>A<PRQ-S-SSGDSGISDA----M-EELE-EAH | 541 |
SCN7A | ----TIQIEMKKRSPISTDTSLD-VLEDAT>L<RHK-------------------EELE-KSK | 468 |
SCN8A | --A-TTEVEIKKKGPGSLLVSMD-QLASYG>R<KDR-I-NSIMSVVTNTL---V-EELE-ESQ | 716 |
SCN9A | ---TTNQIH-KKRRCSSYLLSED-MLNDPN>L<RQR-A-MSRASILTNT----V-EELE-ESR | 696 |
SCN10A | GAVDVSAFD---AGQKKTFLSAE-YLDEPF>R<AQR-A-MSVVSIITSV----L-EELE-ESE | 628 |
SCN11A | ----------KRLSQNLSLDHFD-EHGDPL>Q<RQR-A-LSAVSILTIT----M-KEQE-KSQ | 540 |
CACNA1A | ---D----------LLNPEEAED-QLA--->-<DIA-S-VG---------------------- | 450 |
CACNA1B | ---D----------LIHAEEGED-RFA--->-<DLC-A-VG---------------------- | 446 |
CACNA1C | ---E----------SVNTENVAG-G-D--->-<IEGEN-CG---------------------- | 490 |
CACNA1D | ---E----------SVNTENVSG-EGE--->-<NRG-C-CGSLWCWWR-------RRGA-AKA | 504 |
CACNA1E | ---E----------AMTRDSSDE-HCV--->-<DIS-S-VG---------------------- | 439 |
CACNA1F | ---T----------RS-THSTSSHASL--->-<P-A-SDTGSMTETQG-------DEDE-EEG | 490 |
CACNA1G | PCLK----------ADSGACGPD-SCP--->-<YCA-R-AG-----AG-----EVELADREMP | 686 |
CACNA1H | PSPP----------AGTLTCELK-SCP--->-<YCT-R-AL-----ED-P---EGELSGSESG | 720 |
CACNA1I | --------------------DPA-SCP--->-<CCQ-H-ED-----GR-RPSGLGS---TDSG | 573 |
CACNA1S | ---E----------SLY-EI---------->-<----------------------------AG | 403 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A658V | c.1973C>T | Putative Benign | SIFT: Polyphen: |