No paralogue variants have been mapped to residue 28 for KCNQ1.
KCNQ1 | -S---------------------------->A<---G------------------LAKKCPFS | 37 |
KCNQ2 | GFVGLD-----PGA---------------P>D<----------------------STRDGALL | 41 |
KCNQ3 | EQVTLA-----------------------L>G<--AG------------------ADKDGTLL | 68 |
KCNQ4 | E-LVAL-----------------------T>A<---V------------------QSEQGEAG | 37 |
KCNQ5 | R-VLLN-----------------------S>A<---A------------------ARGDGLLL | 60 |
KCNA1 | ERVVINI----------------------->-<------------------SG--LRFETQLK | 53 |
KCNA10 | QRVIINI----------------------->-<------------------AG--LRFETQLR | 102 |
KCNA2 | ERVVINI----------------------->-<------------------SG--LRFETQLK | 49 |
KCNA3 | ERVVINI----------------------->-<------------------SG--LRFETQLK | 120 |
KCNA4 | ERVVINV----------------------->-<------------------SG--LRFETQMK | 192 |
KCNA5 | QRVHINI----------------------->-<------------------SG--LRFETQLG | 136 |
KCNA6 | ERLVINI----------------------->-<------------------SG--LRFETQLR | 57 |
KCNA7 | ERLVLNV----------------------->-<------------------AG--LRFETRAR | 29 |
KCNB1 | RRVRLNV----------------------->-<------------------GG--LAHEVLWR | 47 |
KCNB2 | RRVKINV----------------------->-<------------------GG--LNHEVLWR | 51 |
KCNC1 | ERIVINVGGTRHQTYRSTLRTLPGTRLAWL>A<EPDAH------------------------- | 43 |
KCNC2 | ERVILNVGGTRHETYRSTLKTLPGTRLALL>A<SSEPPGDCLTTAGDKLQPSPPPLSPPPRAP | 68 |
KCNC3 | GKIVINVGGVRHETYRSTLRTLPGTRLAGL>T<EPEAA------------------------- | 123 |
KCNC4 | EKIIINVGGTRHETYRSTLRTLPGTRLAWL>A<DPDGG------------------------- | 71 |
KCND1 | EVLVVNV----------------------->-<------------------SG--RRFETWKN | 56 |
KCND2 | ALIVLNV----------------------->-<------------------SG--TRFQTWQD | 57 |
KCND3 | ELIVLNV----------------------->-<------------------SG--RRFQTWRT | 56 |
KCNF1 | IEIVVNV----------------------->-<------------------GG--VRQVLYGD | 39 |
KCNG1 | RRIIINV----------------------->-<------------------GG--IKYSLPWT | 79 |
KCNG2 | RHVIINV----------------------->-<------------------GG--CRVRLAWA | 33 |
KCNG3 | ASVVLNV----------------------->-<------------------GG--ARYSLSRE | 25 |
KCNG4 | KEILINV----------------------->-<------------------GG--RRYLLPWS | 75 |
KCNS1 | EALRVNV----------------------->-<------------------GG--VRRQLSAR | 66 |
KCNS2 | GEIRINV----------------------->-<------------------GG--FKRRLRSH | 33 |
KCNS3 | ELVNLNV----------------------->-<------------------GG--FKQSVDQS | 31 |
KCNV1 | DCFTVNV----------------------->-<------------------GG--SRFVLSQQ | 55 |
KCNV2 | STLNVNV----------------------->-<------------------GG--HSYQLDYC | 113 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A28V | c.83C>T | Putative Benign | SIFT: Polyphen: |