No paralogue variants have been mapped to residue 99 for KCNQ1.
KCNQ1 | DL---GPRPPVSL------DPRVSIYSTRR>P<VLARTH------------------------ | 105 |
KCNQ2 | -----KPRAGG--AGAGK-PPKRNAFYRK->-<------------------------------ | 76 |
KCNQ3 | -----GIGL-LAKTPLSRPVKRNNAKYRR->-<------------------------------ | 106 |
KCNQ4 | -----GPGSGSGSACGQR-SSAAHKRYRR->-<------------------------------ | 82 |
KCNQ5 | -----LLGKPL-SYTSSQ-SCRRNVKYRR->-<------------------------------ | 110 |
KCNA1 | EIKFYELGEEAME----K--FREDEGF--->-<------------------------------ | 136 |
KCNA10 | EISFYELGSEAMD----Q--FREDEGF--->-<------------------------------ | 185 |
KCNA2 | EIRFYELGEEAME----M--FREDEGY--->-<------------------------------ | 132 |
KCNA3 | EIRFYQLGEEAME----K--FREDEGF--->-<------------------------------ | 203 |
KCNA4 | EVKFYQLGEEALL----K--FREDEGF--->-<------------------------------ | 275 |
KCNA5 | EIRFYQLGDEAME----R--FREDEGF--->-<------------------------------ | 219 |
KCNA6 | EIRFYQLGDEALA----A--FREDEGC--->-<------------------------------ | 140 |
KCNA7 | EVAFYGLGAAALA----R--LREDEGC--->-<------------------------------ | 112 |
KCNB1 | ELDYWGIDEIYLE----S--CCQARYHQKK>E<QMNEELKREAE----------T-------- | 154 |
KCNB2 | ELDYWGIDEIYLE----S--CCQARYHQKK>E<QMNEELRREAE----------T-------- | 158 |
KCNC1 | ELAFWGIDETDVE----P--CCWMTYRQHR>D<AEEALDSFGGAPLDNSADDADADGPGDSG- | 143 |
KCNC2 | ELAFWGIDETDVE----P--CCWMTYRQHR>D<AEEALDIFETPDLI-------GGDPGD--- | 181 |
KCNC3 | ELGFWGIDETDVE----A--CCWMTYRQHR>D<AEEALDSFEAPDPAGAANAANAAGAHDGGL | 224 |
KCNC4 | ELTFWGIDETDVE----P--CCWMTYRQHR>D<AEEALDIFESPDG-----GGSGAGPSDEAG | 178 |
KCND1 | ELAFYGLVPELVG----D--CCLEEYRDRK>K<ENAERLAEDEEA------------------ | 153 |
KCND2 | ELAFFGLIPEIIG----D--CCYEEYKDRR>R<ENAERLQDDADT------------------ | 154 |
KCND3 | ELAFYGILPEIIG----D--CCYEEYKDRK>R<ENAERLMDDNDS------------------ | 153 |
KCNF1 | EMDFWKVDLKFLD----D--CCKSHLSEKR>E<ELEEIARRVQL------------------- | 147 |
KCNG1 | ELLYWGIAEDHLD----G--CCKRRYLQKI>E<EFAEMVEREEED-----------D------ | 187 |
KCNG2 | ELAYWGIDEARLE----R--CCLRRLRRRE>E<EAAEARAGPTER------------------ | 140 |
KCNG3 | EMIYWGLEGAHLE----Y--CCQRRLDDRM>S<DTYTFYSADEPG------------------ | 133 |
KCNG4 | ELAYWGIEEAHLE----R--CCLRKLLRKL>E<ELEELAKLHRED------------------ | 182 |
KCNS1 | EADYWGLGENALA----A--CCRARYLERR>L<TQ-PHAWDEDSD---------TPSSVDPC- | 180 |
KCNS2 | EIEYWGINEFFID----S--CCSYSYHGRK>V<EPEQEKWDEQSD---------QES-TTSS- | 147 |
KCNS3 | EIEYWGINELFID----S--CCSNRYQERK>E<ENHEKDWDQKSH---------DVS-TDSS- | 145 |
KCNV1 | EIQYWGIDELSID----S--CCRDRYFRRK>E<-LSETLDFKKD----------T-------- | 171 |
KCNV2 | ELGYWGVRLKYTP----R--CCRICFEERR>D<ELSERLKIQHE------------------- | 219 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P99R | c.296C>G | Other Cardiac Phenotype | rs370435862 | SIFT: deleterious Polyphen: probably damaging | |
Reports | Other Cardiac Phenotype | Cardiac channelopathy testing in 274 ethnically diverse sudden unexplained deaths. Forensic Sci Int. 2014 237:90-9. doi: 10.1016/j.forsciint.2014.01.014. 24631775 |