No paralogue variants have been mapped to residue 550 for KCNQ1.
KCNQ1 | --YFVAKKKFQQARKPYDVRDVIEQYSQGH>L<NLMVRIKELQRRLDQSIGKPSLFIS----- | 575 |
KCNQ2 | --FLVSKRKFKESLRPYDVMDVIEQYSAGH>L<DMLSRIKSLQSRVDQIVGRGPAITD--KDR | 604 |
KCNQ3 | --FRLYKKKFKETLRPYDVKDVIEQYSAGH>L<DMLSRIKYLQTRIDMIFTPGPPSTP--KHK | 583 |
KCNQ4 | --FLVAKRKFKETLRPYDVKDVIEQYSAGH>L<DMLGRIKSLQTRVDQIVGRGPGDRKAREKG | 600 |
KCNQ5 | --FHVAKRKFKETLRPYDVKDVIEQYSAGH>L<DMLCRIKSLQTRVDQILGKGQITSD-KKSR | 587 |
KCNA1 | --TD-------------------------->-<------------------------------ | 494 |
KCNA10 | --SR-------------------------->-<------------------------------ | 510 |
KCNA2 | --TD-------------------------->-<------------------------------ | 498 |
KCNA3 | --TD-------------------------->-<------------------------------ | 574 |
KCNA4 | --TD-------------------------->-<------------------------------ | 652 |
KCNA5 | RETD-------------------------->-<------------------------------ | 612 |
KCNA6 | --TE-------------------------->-<------------------------------ | 528 |
KCNA7 | --TE-------------------------->-<------------------------------ | 455 |
KCNB1 | --EG-------DPSPLLPVLGMYHDPLRNR>G<SAAAAVAGLECA------------------ | 711 |
KCNB2 | --ENRGSAPQTPPSTARPLPVTTADFSLTT>P<QHISTILLEETP------------------ | 761 |
KCNC1 | --LSTGEYACPPGGGMRK----------DL>C<KESP---VIAKY------------------ | 576 |
KCNC2 | --LTTGDYTCASDGGIRKG----YEKSRSL>N<NIAGLAGNALRL------------------ | 614 |
KCNC3 | --LT--DYAPSPDGSIRKATGAPPLPPQDW>R<KPGPPS-FLPDL------------------ | 747 |
KCNC4 | --LSTGDYACA-DGSVRKG----TFVLRDL>P<LQHSP---EAAC------------------ | 624 |
KCND1 | --LDMLA--GLRRSHAPQSRSSLNAKPHDS>L<DLNCDSRDFVAA------------------ | 597 |
KCND2 | --LSTIQIRCVERTPLSNSRSSLNAKMEEC>V<KLNCEQPYVTTA------------------ | 596 |
KCND3 | --LSTIHIQGSEQPSLTTSRSSLNLKADDG>L<RPNCKTSQITTA------------------ | 613 |
KCNF1 | ------------------------------>-<------------------------------ | |
KCNG1 | ------------------------------>-<------------------------------ | |
KCNG2 | ------------------------------>-<------------------------------ | |
KCNG3 | ------------------------------>-<------------------------------ | |
KCNG4 | ------------------------------>-<------------------------------ | |
KCNS1 | ------------------------------>-<------------------------------ | |
KCNS2 | ------------------------------>-<------------------------------ | |
KCNS3 | ------------------------------>-<------------------------------ | |
KCNV1 | ------------------------------>-<------------------------------ | |
KCNV2 | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L550I | c.1648C>A | Putative Benign | SIFT: Polyphen: |