No paralogue variants have been mapped to residue 416 for KCNQ1.
KCNQ1 | ------------------TLLSPSPKPKKS>V<VVKKKKFKLDKDNGV--------------- | 431 |
KCNQ2 | PE-PSP-SKG--SP-CRGPLCGCCPGRSSQ>K<VSLKDRV-FSSPRGV--------------- | 450 |
KCNQ3 | --------------------KEQLEAASSQ>K<LGLLDRVRLSNPRGS--------------- | 438 |
KCNQ4 | PD-GAP-SRYPPVATCHRPGSTSFCPGESS>R<MGIKDRIRMGSSQRR--------------- | 448 |
KCNQ5 | ------------LHTCSPTKKEQGEASSSQ>K<LSFKERVRMASPRGQ--------------- | 433 |
KCNA1 | AHYRQV-NIR-------------------->-<------------------------------ | 474 |
KCNA10 | --G--------------------------->-<------------------------------ | 502 |
KCNA2 | --FREE-NLK-------------------->-<------------------------------ | 478 |
KCNA3 | TPFKTG-N-S-------------------->-<------------------------------ | 552 |
KCNA4 | CAKEEKCQGK-------------------->-<------------------------------ | 632 |
KCNA5 | KSNVD------------------------->-<------------------------------ | 595 |
KCNA6 | PSYLPT------------------------>-<------------------------------ | 515 |
KCNA7 | ---LPP-P---------------------->-<------------------------------ | 443 |
KCNB1 | DNHLSPNKWKW------------------->-<---TKRTLSETSSSK--------------- | 502 |
KCNB2 | DNHLSPSRWKW------------------->-<---ARKALSETSSNK--------------- | 506 |
KCNC1 | VAKAALANED-------------------->-<------------------------------ | 518 |
KCNC2 | ----VLSGDD-------------------->-<------------------------------ | 544 |
KCNC3 | PAAAALAHED-------------------->-<------------------------------ | 676 |
KCNC4 | -ANAVLSDEE-------------------->-<------------------------------ | 554 |
KCND1 | HHHLLHCLEKT------------------->-<--------------T--------------- | 489 |
KCND2 | HHHLLHCLEKT------------------->-<--------------T--------------- | 489 |
KCND3 | HHHLLHCLEKT------------------->-<--------------TGLSYLVDDPLLSVRT | 502 |
KCNF1 | RLKLSHSDTF-------------------->-<---------IPLLTE--------------- | 482 |
KCNG1 | ------------------------------>-<------------------------------ | |
KCNG2 | ------------------------------>-<------------------------------ | |
KCNG3 | ------------------------------>-<------------------------------ | |
KCNG4 | ------------------------------>-<------------------------------ | |
KCNS1 | QM---------------------------->-<------------------------------ | 525 |
KCNS2 | DSL--------------------------->-<------------------------------ | 476 |
KCNS3 | ASSIEDNEDI-------------------->-<---------CNTTSL--------------- | 485 |
KCNV1 | DDF--------------------------->-<---------W-------------------- | 499 |
KCNV2 | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V416M | c.1246G>A | Putative Benign | SIFT: Polyphen: |