No paralogue variants have been mapped to residue 656 for SCN5A.
SCN5A | --DTTTPSEEPGGPQMLTSQAPCVD-GFEE>P<GARQR-A-LSAVSVLTSA----L-EELE-E | 678 |
SCN1A | TDDNGTTTETEMRKRRSSSFHVSMD-FLED>P<SQRQR-A-MSIASILTNT----V-EELE-E | 729 |
SCN2A | ----GTTTETEIRKRRSSSYHVSMD-LLED>P<TSRQR-A-MSIASILTNT----M-EELE-E | 720 |
SCN3A | ----GTTTETEVRKRRLSSYQISME-MLED>S<SGRQR-A-VSIASILTNT----M-EELE-E | 721 |
SCN4A | --------------------------E--->K<GAPRQ-S-SSGDSGISDA----M-EELE-E | 539 |
SCN7A | ------TIQIEMKKRSPISTDTSLD-VLED>A<TLRHK-------------------EELE-K | 466 |
SCN8A | ----A-TTEVEIKKKGPGSLLVSMD-QLAS>Y<GRKDR-I-NSIMSVVTNTL---V-EELE-E | 714 |
SCN9A | -----TTNQIH-KKRRCSSYLLSED-MLND>P<NLRQR-A-MSRASILTNT----V-EELE-E | 694 |
SCN10A | --GAVDVSAFD---AGQKKTFLSAE-YLDE>P<FRAQR-A-MSVVSIITSV----L-EELE-E | 626 |
SCN11A | ------------KRLSQNLSLDHFD-EHGD>P<LQRQR-A-LSAVSILTIT----M-KEQE-K | 538 |
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-A | 502 |
CACNA1E | -----E----------AMTRDSSDE-HCV->-<--DIS-S-VG-------------------- | 439 |
CACNA1F | -----T----------RS-THSTSSHASL->-<--P-A-SDTGSMTETQG-------DEDE-E | 488 |
CACNA1G | SSPCLK----------ADSGACGPD-SCP->-<--YCA-R-AG-----AG-----EVELADRE | 684 |
CACNA1H | PLPSPP----------AGTLTCELK-SCP->-<--YCT-R-AL-----ED-P---EGELSGSE | 718 |
CACNA1I | ----------------------DPA-SCP->-<--CCQ-H-ED-----GR-RPSGLGS---TD | 571 |
CACNA1S | -----E----------SLY-EI-------->-<------------------------------ | 401 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P656L | c.1967C>T | Putative Benign | rs41313681 | SIFT: deleterious Polyphen: benign | |
Reports | Putative Benign | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | |||
Putative Benign | 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 |