No paralogue variants have been mapped to residue 418 for KCNQ1.
KCNQ1 | ----------------TLLSPSPKPKKSVV>V<KKKKFKLDKDNGV----------------- | 431 |
KCNQ2 | -PSP-SKG--SP-CRGPLCGCCPGRSSQKV>S<LKDRV-FSSPRGV----------------- | 450 |
KCNQ3 | ------------------KEQLEAASSQKL>G<LLDRVRLSNPRGS----------------- | 438 |
KCNQ4 | -GAP-SRYPPVATCHRPGSTSFCPGESSRM>G<IKDRIRMGSSQRR----------------- | 448 |
KCNQ5 | ----------LHTCSPTKKEQGEASSSQKL>S<FKERVRMASPRGQ----------------- | 433 |
KCNA1 | YRQV-NIR---------------------->-<------------------------------ | 474 |
KCNA10 | G----------------------------->-<------------------------------ | 502 |
KCNA2 | FREE-NLK---------------------->-<------------------------------ | 478 |
KCNA3 | FKTG-N-S---------------------->-<------------------------------ | 552 |
KCNA4 | KEEKCQGK---------------------->-<------------------------------ | 632 |
KCNA5 | NVD--------------------------->-<------------------------------ | 595 |
KCNA6 | YLPT-------------------------->-<------------------------------ | 515 |
KCNA7 | -LPP-P------------------------>-<------------------------------ | 443 |
KCNB1 | HLSPNKWKW--------------------->-<-TKRTLSETSSSK----------------- | 502 |
KCNB2 | HLSPSRWKW--------------------->-<-ARKALSETSSNK----------------- | 506 |
KCNC1 | KAALANED---------------------->-<------------------------------ | 518 |
KCNC2 | --VLSGDD---------------------->-<------------------------------ | 544 |
KCNC3 | AAALAHED---------------------->-<------------------------------ | 676 |
KCNC4 | NAVLSDEE---------------------->-<------------------------------ | 554 |
KCND1 | HLLHCLEKT--------------------->-<------------T----------------- | 489 |
KCND2 | HLLHCLEKT--------------------->-<------------T----------------- | 489 |
KCND3 | HLLHCLEKT--------------------->-<------------TGLSYLVDDPLLSVRTST | 504 |
KCNF1 | KLSHSDTF---------------------->-<-------IPLLTE----------------- | 482 |
KCNG1 | ------------------------------>-<------------------------------ | |
KCNG2 | ------------------------------>-<------------------------------ | |
KCNG3 | ------------------------------>-<------------------------------ | |
KCNG4 | ------------------------------>-<------------------------------ | |
KCNS1 | ------------------------------>-<------------------------------ | |
KCNS2 | L----------------------------->-<------------------------------ | 476 |
KCNS3 | SIEDNEDI---------------------->-<-------CNTTSL----------------- | 485 |
KCNV1 | F----------------------------->-<-------W---------------------- | 499 |
KCNV2 | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V418I | c.1252G>A | Putative Benign | SIFT: Polyphen: |