No paralogue variants have been mapped to residue 651 for SCN5A.
SCN5A | MLEHPP--DTTTPSEEPGGPQMLTSQAPCV>D<-GFEEPGARQR-A-LSAVSVLTSA----L- | 673 |
SCN1A | IIDKPATDDNGTTTETEMRKRRSSSFHVSM>D<-FLEDPSQRQR-A-MSIASILTNT----V- | 724 |
SCN2A | ----------GTTTETEIRKRRSSSYHVSM>D<-LLEDPTSRQR-A-MSIASILTNT----M- | 715 |
SCN3A | ----------GTTTETEVRKRRLSSYQISM>E<-MLEDSSGRQR-A-VSIASILTNT----M- | 716 |
SCN4A | ------------------------------>-<-E---KGAPRQ-S-SSGDSGISDA----M- | 534 |
SCN7A | ------------TIQIEMKKRSPISTDTSL>D<-VLEDATLRHK------------------- | 461 |
SCN8A | ----------A-TTEVEIKKKGPGSLLVSM>D<-QLASYGRKDR-I-NSIMSVVTNTL---V- | 709 |
SCN9A | -----------TTNQIH-KKRRCSSYLLSE>D<-MLNDPNLRQR-A-MSRASILTNT----V- | 689 |
SCN10A | --------GAVDVSAFD---AGQKKTFLSA>E<-YLDEPFRAQR-A-MSVVSIITSV----L- | 621 |
SCN11A | ------------------KRLSQNLSLDHF>D<-EHGDPLQRQR-A-LSAVSILTIT----M- | 533 |
CACNA1A | -----------D----------LLNPEEAE>D<-QLA----DIA-S-VG-------------- | 450 |
CACNA1B | -----------D----------LIHAEEGE>D<-RFA----DLC-A-VG-------------- | 446 |
CACNA1C | -----------E----------SVNTENVA>G<-G-D----IEGEN-CG-------------- | 490 |
CACNA1D | -----------E----------SVNTENVS>G<-EGE----NRG-C-CGSLWCWWR------- | 497 |
CACNA1E | -----------E----------AMTRDSSD>E<-HCV----DIS-S-VG-------------- | 439 |
CACNA1F | -----------T----------RS-THSTS>S<HASL----P-A-SDTGSMTETQG------- | 483 |
CACNA1G | SC--KISSPCLK----------ADSGACGP>D<-SCP----YCA-R-AG-----AG-----EV | 678 |
CACNA1H | SV--PCPLPSPP----------AGTLTCEL>K<-SCP----YCT-R-AL-----ED-P---EG | 712 |
CACNA1I | ----------------------------DP>A<-SCP----CCQ-H-ED-----GR-RPSGLG | 568 |
CACNA1S | -----------E----------SLY-EI-->-<------------------------------ | 401 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Asp651His | c.1951G>C | Unknown | SIFT: Polyphen: |