No paralogue variants have been mapped to residue 654 for SCN5A.
SCN5A | PP--DTTTPSEEPGGPQMLTSQAPCVD-GF>E<EPGARQR-A-LSAVSVLTSA----L-EELE | 677 |
SCN1A | PATDDNGTTTETEMRKRRSSSFHVSMD-FL>E<DPSQRQR-A-MSIASILTNT----V-EELE | 728 |
SCN2A | ------GTTTETEIRKRRSSSYHVSMD-LL>E<DPTSRQR-A-MSIASILTNT----M-EELE | 719 |
SCN3A | ------GTTTETEVRKRRLSSYQISME-ML>E<DSSGRQR-A-VSIASILTNT----M-EELE | 720 |
SCN4A | ----------------------------E->-<-KGAPRQ-S-SSGDSGISDA----M-EELE | 538 |
SCN7A | --------TIQIEMKKRSPISTDTSLD-VL>E<DATLRHK-------------------EELE | 465 |
SCN8A | ------A-TTEVEIKKKGPGSLLVSMD-QL>A<SYGRKDR-I-NSIMSVVTNTL---V-EELE | 713 |
SCN9A | -------TTNQIH-KKRRCSSYLLSED-ML>N<DPNLRQR-A-MSRASILTNT----V-EELE | 693 |
SCN10A | ----GAVDVSAFD---AGQKKTFLSAE-YL>D<EPFRAQR-A-MSVVSIITSV----L-EELE | 625 |
SCN11A | --------------KRLSQNLSLDHFD-EH>G<DPLQRQR-A-LSAVSILTIT----M-KEQE | 537 |
CACNA1A | -------D----------LLNPEEAED-QL>A<----DIA-S-VG------------------ | 450 |
CACNA1B | -------D----------LIHAEEGED-RF>A<----DLC-A-VG------------------ | 446 |
CACNA1C | -------E----------SVNTENVAG-G->D<----IEGEN-CG------------------ | 490 |
CACNA1D | -------E----------SVNTENVSG-EG>E<----NRG-C-CGSLWCWWR-------RRGA | 501 |
CACNA1E | -------E----------AMTRDSSDE-HC>V<----DIS-S-VG------------------ | 439 |
CACNA1F | -------T----------RS-THSTSSHAS>L<----P-A-SDTGSMTETQG-------DEDE | 487 |
CACNA1G | KISSPCLK----------ADSGACGPD-SC>P<----YCA-R-AG-----AG-----EVELAD | 682 |
CACNA1H | PCPLPSPP----------AGTLTCELK-SC>P<----YCT-R-AL-----ED-P---EGELSG | 716 |
CACNA1I | ------------------------DPA-SC>P<----CCQ-H-ED-----GR-RPSGLGS--- | 569 |
CACNA1S | -------E----------SLY-EI------>-<------------------------------ | 401 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E654K | c.1960G>A | Inherited Arrhythmia | LQTS | rs199473138 | SIFT: deleterious Polyphen: benign |
Reports | Inherited Arrhythmia | LQTS | Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085 |