No paralogue variants have been mapped to residue 652 for SCN5A.
SCN5A | EHPP--DTTTPSEEPGGPQMLTSQAPCVD->G<FEEPGARQR-A-LSAVSVLTSA----L-EE | 675 |
SCN1A | DKPATDDNGTTTETEMRKRRSSSFHVSMD->F<LEDPSQRQR-A-MSIASILTNT----V-EE | 726 |
SCN2A | --------GTTTETEIRKRRSSSYHVSMD->L<LEDPTSRQR-A-MSIASILTNT----M-EE | 717 |
SCN3A | --------GTTTETEVRKRRLSSYQISME->M<LEDSSGRQR-A-VSIASILTNT----M-EE | 718 |
SCN4A | ------------------------------>E<---KGAPRQ-S-SSGDSGISDA----M-EE | 536 |
SCN7A | ----------TIQIEMKKRSPISTDTSLD->V<LEDATLRHK-------------------EE | 463 |
SCN8A | --------A-TTEVEIKKKGPGSLLVSMD->Q<LASYGRKDR-I-NSIMSVVTNTL---V-EE | 711 |
SCN9A | ---------TTNQIH-KKRRCSSYLLSED->M<LNDPNLRQR-A-MSRASILTNT----V-EE | 691 |
SCN10A | ------GAVDVSAFD---AGQKKTFLSAE->Y<LDEPFRAQR-A-MSVVSIITSV----L-EE | 623 |
SCN11A | ----------------KRLSQNLSLDHFD->E<HGDPLQRQR-A-LSAVSILTIT----M-KE | 535 |
CACNA1A | ---------D----------LLNPEEAED->Q<LA----DIA-S-VG---------------- | 450 |
CACNA1B | ---------D----------LIHAEEGED->R<FA----DLC-A-VG---------------- | 446 |
CACNA1C | ---------E----------SVNTENVAG->G<-D----IEGEN-CG---------------- | 490 |
CACNA1D | ---------E----------SVNTENVSG->E<GE----NRG-C-CGSLWCWWR-------RR | 499 |
CACNA1E | ---------E----------AMTRDSSDE->H<CV----DIS-S-VG---------------- | 439 |
CACNA1F | ---------T----------RS-THSTSSH>A<SL----P-A-SDTGSMTETQG-------DE | 485 |
CACNA1G | --KISSPCLK----------ADSGACGPD->S<CP----YCA-R-AG-----AG-----EVEL | 680 |
CACNA1H | --PCPLPSPP----------AGTLTCELK->S<CP----YCT-R-AL-----ED-P---EGEL | 714 |
CACNA1I | --------------------------DPA->S<CP----CCQ-H-ED-----GR-RPSGLGS- | 569 |
CACNA1S | ---------E----------SLY-EI---->-<------------------------------ | 401 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G652D | c.1955G>A | Putative Benign | SIFT: Polyphen: |