No paralogue variants have been mapped to residue 662 for SCN5A.
SCN5A | SEEPGGPQMLTSQAPCVD-GFEEPGARQR->A<-LSAVSVLTSA----L-EELE-ESR----- | 680 |
SCN1A | TETEMRKRRSSSFHVSMD-FLEDPSQRQR->A<-MSIASILTNT----V-EELE-ESR----- | 731 |
SCN2A | TETEIRKRRSSSYHVSMD-LLEDPTSRQR->A<-MSIASILTNT----M-EELE-ESR----- | 722 |
SCN3A | TETEVRKRRLSSYQISME-MLEDSSGRQR->A<-VSIASILTNT----M-EELE-ESR----- | 723 |
SCN4A | -------------------E---KGAPRQ->S<-SSGDSGISDA----M-EELE-EAH----- | 541 |
SCN7A | IQIEMKKRSPISTDTSLD-VLEDATLRHK->-<-----------------EELE-KSK----- | 468 |
SCN8A | TEVEIKKKGPGSLLVSMD-QLASYGRKDR->I<-NSIMSVVTNTL---V-EELE-ESQ----- | 716 |
SCN9A | NQIH-KKRRCSSYLLSED-MLNDPNLRQR->A<-MSRASILTNT----V-EELE-ESR----- | 696 |
SCN10A | SAFD---AGQKKTFLSAE-YLDEPFRAQR->A<-MSVVSIITSV----L-EELE-ESE----- | 628 |
SCN11A | -----KRLSQNLSLDHFD-EHGDPLQRQR->A<-LSAVSILTIT----M-KEQE-KSQ----- | 540 |
CACNA1A | ---------LLNPEEAED-QLA----DIA->S<-VG--------------------------- | 450 |
CACNA1B | ---------LIHAEEGED-RFA----DLC->A<-VG--------------------------- | 446 |
CACNA1C | ---------SVNTENVAG-G-D----IEGE>N<-CG--------------------------- | 490 |
CACNA1D | ---------SVNTENVSG-EGE----NRG->C<-CGSLWCWWR-------RRGA-AKA----- | 504 |
CACNA1E | ---------AMTRDSSDE-HCV----DIS->S<-VG--------------------------- | 439 |
CACNA1F | ---------RS-THSTSSHASL----P-A->S<DTGSMTETQG-------DEDE-EEG----- | 490 |
CACNA1G | ---------ADSGACGPD-SCP----YCA->R<-AG-----AG-----EVELADREMP-DSDS | 690 |
CACNA1H | ---------AGTLTCELK-SCP----YCT->R<-AL-----ED-P---EGELSGSESG-DSDG | 724 |
CACNA1I | ---------------DPA-SCP----CCQ->H<-ED-----GR-RPSGLGS---TDSGQEGSG | 578 |
CACNA1S | ---------SLY-EI--------------->-<-----------------------AG----- | 403 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A662S | c.1984G>T | Other Cardiac Phenotype | rs371313714 | SIFT: tolerated Polyphen: benign | |
Reports | Other Cardiac Phenotype | Cardiac channelopathy testing in 274 ethnically diverse sudden unexplained deaths. Forensic Sci Int. 2014 237:90-9. doi: 10.1016/j.forsciint.2014.01.014. 24631775 |