No paralogue variants have been mapped to residue 586 for KCNQ1.
KCNQ1 | ---V-----------------SEKSKDRGS>N<TIGARLNRVEDKVTQLDQRLALITDMLHQL | 616 |
KCNQ2 | --KG-----------------PAEAELPED>P<SMMGRLGKVEKQVLSMEKKLDFLVNIYMQR | 647 |
KCNQ3 | KGSAFTFPSQQSPRNEPYVARPSTSEI-ED>Q<SMMGKFVKVERQVQDMGKKLDFLVDMHMQH | 646 |
KCNQ4 | --KG-----------------PSDAEVVDE>I<SMMGRVVKVEKQVQSIEHKLDLLLGFYSRC | 643 |
KCNQ5 | --KI-----------------TAEHETTDD>L<SMLGRVVKVEKQVQSIESKLDCLLDIYQQV | 630 |
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.N586D | c.1756A>G | Inherited Arrhythmia | LQTS | rs199472812 | SIFT: tolerated Polyphen: probably damaging |
Reports | Inherited Arrhythmia | LQTS | Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. JAMA. 2005 294(23):2975-80. 16414944 | ||
p.N586S | c.1757A>G | Inherited Arrhythmia | LQTS | SIFT: Polyphen: |