No paralogue variants have been mapped to residue 595 for KCNQ1.
KCNQ1 | ------------SEKSKDRGSNTIGARLNR>V<EDKVTQLDQRLALITDMLHQLLSLHGGS-- | 623 |
KCNQ2 | ------------PAEAELPEDPSMMGRLGK>V<EKQVLSMEKKLDFLVNIYMQRMGIPPTE-- | 654 |
KCNQ3 | QQSPRNEPYVARPSTSEI-EDQSMMGKFVK>V<ERQVQDMGKKLDFLVDMHMQHMERLQVQ-- | 653 |
KCNQ4 | ------------PSDAEVVDEISMMGRVVK>V<EKQVQSIEHKLDLLLGFYSRCLRSGTSA-- | 650 |
KCNQ5 | ------------TAEHETTDDLSMLGRVVK>V<EKQVQSIESKLDCLLDIYQQVLRKGSASAL | 639 |
KCNA1 | ------------------------------>-<------------------------------ | |
KCNA10 | ------------------------------>-<------------------------------ | |
KCNA2 | ------------------------------>-<------------------------------ | |
KCNA3 | ------------------------------>-<------------------------------ | |
KCNA4 | ------------------------------>-<------------------------------ | |
KCNA5 | ------------------------------>-<------------------------------ | |
KCNA6 | ------------------------------>-<------------------------------ | |
KCNA7 | ------------------------------>-<------------------------------ | |
KCNB1 | ------------------------------>-<------------------------------ | |
KCNB2 | ------------------------------>-<------------------------------ | |
KCNC1 | ------------------------------>-<------------------------------ | |
KCNC2 | ------------------------------>-<------------------------------ | |
KCNC3 | ------------------------------>-<------------------------------ | |
KCNC4 | ------------------------------>-<------------------------------ | |
KCND1 | ------------------------------>-<------------------------------ | |
KCND2 | ------------------------------>-<------------------------------ | |
KCND3 | ------------------------------>-<------------------------------ | |
KCNF1 | ------------------------------>-<------------------------------ | |
KCNG1 | ------------------------------>-<------------------------------ | |
KCNG2 | ------------------------------>-<------------------------------ | |
KCNG3 | ------------------------------>-<------------------------------ | |
KCNG4 | ------------------------------>-<------------------------------ | |
KCNS1 | ------------------------------>-<------------------------------ | |
KCNS2 | ------------------------------>-<------------------------------ | |
KCNS3 | ------------------------------>-<------------------------------ | |
KCNV1 | ------------------------------>-<------------------------------ | |
KCNV2 | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V595L | c.1783G>T | Putative Benign | SIFT: Polyphen: |