No paralogue variants have been mapped to residue 538 for KCNQ1.
KCNQ1 | RRMQ----------YFVAKKKFQQARKPYD>V<RDVIEQYSQGHLNLMVRIKELQRRLDQSIG | 568 |
KCNQ2 | CVMR----------FLVSKRKFKESLRPYD>V<MDVIEQYSAGHLDMLSRIKSLQSRVDQIVG | 594 |
KCNQ3 | RILQ----------FRLYKKKFKETLRPYD>V<KDVIEQYSAGHLDMLSRIKYLQTRIDMIFT | 573 |
KCNQ4 | RILK----------FLVAKRKFKETLRPYD>V<KDVIEQYSAGHLDMLGRIKSLQTRVDQIVG | 588 |
KCNQ5 | RIMK----------FHVAKRKFKETLRPYD>V<KDVIEQYSAGHLDMLCRIKSLQTRVDQILG | 576 |
KCNA1 | SKLL----------TD-------------->-<------------------------------ | 494 |
KCNA10 | STEK----------SR-------------->-<------------------------------ | 510 |
KCNA2 | TKML----------TD-------------->-<------------------------------ | 498 |
KCNA3 | KKIF----------TD-------------->-<------------------------------ | 574 |
KCNA4 | KAVE----------TD-------------->-<------------------------------ | 652 |
KCNA5 | RRSLYALCLDTSRETD-------------->-<------------------------------ | 612 |
KCNA6 | KRML----------TE-------------->-<------------------------------ | 528 |
KCNA7 | KHLV----------TE-------------->-<------------------------------ | 455 |
KCNB1 | VNFM----------EG-------DPSPLLP>V<LGMYHDPLRNRGSAAAAVAGLECA------ | 711 |
KCNB2 | VNFK----------ENRGSAPQTPPSTARP>L<PVTTADFSLTTPQHISTILLEETP------ | 761 |
KCNC1 | -CFL----------LSTGEYACPPGGGMRK>-<---------DLCKESP---VIAKY------ | 576 |
KCNC2 | TCFL----------LTTGDYTCASDGGIRK>G<----YEKSRSLNNIAGLAGNALRL------ | 614 |
KCNC3 | ACFL----------LT--DYAPSPDGSIRK>A<TGAPPLPPQDWRKPGPPS-FLPDL------ | 747 |
KCNC4 | ACFL----------LSTGDYACA-DGSVRK>G<----TFVLRDLPLQHSP---EAAC------ | 624 |
KCND1 | SMQE----------LDMLA--GLRRSHAPQ>S<RSSLNAKPHDSLDLNCDSRDFVAA------ | 597 |
KCND2 | SIQE----------LSTIQIRCVERTPLSN>S<RSSLNAKMEECVKLNCEQPYVTTA------ | 596 |
KCND3 | SMQE----------LSTIHIQGSEQPSLTT>S<RSSLNLKADDGLRPNCKTSQITTA------ | 613 |
KCNF1 | ------------------------------>-<------------------------------ | |
KCNG1 | ------------------------------>-<------------------------------ | |
KCNG2 | ------------------------------>-<------------------------------ | |
KCNG3 | ------------------------------>-<------------------------------ | |
KCNG4 | ------------------------------>-<------------------------------ | |
KCNS1 | ------------------------------>-<------------------------------ | |
KCNS2 | ------------------------------>-<------------------------------ | |
KCNS3 | ------------------------------>-<------------------------------ | |
KCNV1 | ------------------------------>-<------------------------------ | |
KCNV2 | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V538M | c.1612G>A | Putative Benign | SIFT: deleterious Polyphen: probably damaging |