No paralogue variants have been mapped to residue 417 for KCNQ1.
KCNQ1 | -----------------TLLSPSPKPKKSV>V<VKKKKFKLDKDNGV---------------- | 431 |
KCNQ2 | E-PSP-SKG--SP-CRGPLCGCCPGRSSQK>V<SLKDRV-FSSPRGV---------------- | 450 |
KCNQ3 | -------------------KEQLEAASSQK>L<GLLDRVRLSNPRGS---------------- | 438 |
KCNQ4 | D-GAP-SRYPPVATCHRPGSTSFCPGESSR>M<GIKDRIRMGSSQRR---------------- | 448 |
KCNQ5 | -----------LHTCSPTKKEQGEASSSQK>L<SFKERVRMASPRGQ---------------- | 433 |
KCNA1 | HYRQV-NIR--------------------->-<------------------------------ | 474 |
KCNA10 | -G---------------------------->-<------------------------------ | 502 |
KCNA2 | -FREE-NLK--------------------->-<------------------------------ | 478 |
KCNA3 | PFKTG-N-S--------------------->-<------------------------------ | 552 |
KCNA4 | AKEEKCQGK--------------------->-<------------------------------ | 632 |
KCNA5 | SNVD-------------------------->-<------------------------------ | 595 |
KCNA6 | SYLPT------------------------->-<------------------------------ | 515 |
KCNA7 | --LPP-P----------------------->-<------------------------------ | 443 |
KCNB1 | NHLSPNKWKW-------------------->-<--TKRTLSETSSSK---------------- | 502 |
KCNB2 | NHLSPSRWKW-------------------->-<--ARKALSETSSNK---------------- | 506 |
KCNC1 | AKAALANED--------------------->-<------------------------------ | 518 |
KCNC2 | ---VLSGDD--------------------->-<------------------------------ | 544 |
KCNC3 | AAAALAHED--------------------->-<------------------------------ | 676 |
KCNC4 | ANAVLSDEE--------------------->-<------------------------------ | 554 |
KCND1 | HHLLHCLEKT-------------------->-<-------------T---------------- | 489 |
KCND2 | HHLLHCLEKT-------------------->-<-------------T---------------- | 489 |
KCND3 | HHLLHCLEKT-------------------->-<-------------TGLSYLVDDPLLSVRTS | 503 |
KCNF1 | LKLSHSDTF--------------------->-<--------IPLLTE---------------- | 482 |
KCNG1 | ------------------------------>-<------------------------------ | |
KCNG2 | ------------------------------>-<------------------------------ | |
KCNG3 | ------------------------------>-<------------------------------ | |
KCNG4 | ------------------------------>-<------------------------------ | |
KCNS1 | M----------------------------->-<------------------------------ | 525 |
KCNS2 | SL---------------------------->-<------------------------------ | 476 |
KCNS3 | SSIEDNEDI--------------------->-<--------CNTTSL---------------- | 485 |
KCNV1 | DF---------------------------->-<--------W--------------------- | 499 |
KCNV2 | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V417M | c.1249G>A | Putative Benign | rs267607197 | SIFT: tolerated Polyphen: benign |