No paralogue variants have been mapped to residue 96 for KCNQ1.
KCNQ1 | VASDL---GPRPPVSL------DPRVSIYS>T<RRPVLARTH--------------------- | 105 |
KCNQ2 | --------KPRAGG--AGAGK-PPKRNAFY>R<K----------------------------- | 76 |
KCNQ3 | --------GIGL-LAKTPLSRPVKRNNAKY>R<R----------------------------- | 106 |
KCNQ4 | --------GPGSGSGSACGQR-SSAAHKRY>R<R----------------------------- | 82 |
KCNQ5 | --------LLGKPL-SYTSSQ-SCRRNVKY>R<R----------------------------- | 110 |
KCNA1 | FSEEIKFYELGEEAME----K--FREDEGF>-<------------------------------ | 136 |
KCNA10 | FADEISFYELGSEAMD----Q--FREDEGF>-<------------------------------ | 185 |
KCNA2 | FSEEIRFYELGEEAME----M--FREDEGY>-<------------------------------ | 132 |
KCNA3 | FSEEIRFYQLGEEAME----K--FREDEGF>-<------------------------------ | 203 |
KCNA4 | FTEEVKFYQLGEEALL----K--FREDEGF>-<------------------------------ | 275 |
KCNA5 | FADEIRFYQLGDEAME----R--FREDEGF>-<------------------------------ | 219 |
KCNA6 | FLEEIRFYQLGDEALA----A--FREDEGC>-<------------------------------ | 140 |
KCNA7 | FLEEVAFYGLGAAALA----R--LREDEGC>-<------------------------------ | 112 |
KCNB1 | FSQELDYWGIDEIYLE----S--CCQARYH>Q<KKEQMNEELKREAE----------T----- | 154 |
KCNB2 | FGQELDYWGIDEIYLE----S--CCQARYH>Q<KKEQMNEELRREAE----------T----- | 158 |
KCNC1 | YEEELAFWGIDETDVE----P--CCWMTYR>Q<HRDAEEALDSFGGAPLDNSADDADADGPGD | 141 |
KCNC2 | FEEELAFWGIDETDVE----P--CCWMTYR>Q<HRDAEEALDIFETPDLI-------GGDPGD | 181 |
KCNC3 | FEEELGFWGIDETDVE----A--CCWMTYR>Q<HRDAEEALDSFEAPDPAGAANAANAAGAHD | 221 |
KCNC4 | FEEELTFWGIDETDVE----P--CCWMTYR>Q<HRDAEEALDIFESPDG-----GGSGAGPSD | 175 |
KCND1 | FDEELAFYGLVPELVG----D--CCLEEYR>D<RKKENAERLAEDEEA--------------- | 153 |
KCND2 | YDEELAFFGLIPEIIG----D--CCYEEYK>D<RRRENAERLQDDADT--------------- | 154 |
KCND3 | YDDELAFYGILPEIIG----D--CCYEEYK>D<RKRENAERLMDDNDS--------------- | 153 |
KCNF1 | FKNEMDFWKVDLKFLD----D--CCKSHLS>E<KREELEEIARRVQL---------------- | 147 |
KCNG1 | FQEELLYWGIAEDHLD----G--CCKRRYL>Q<KIEEFAEMVEREEED-----------D--- | 187 |
KCNG2 | FRDELAYWGIDEARLE----R--CCLRRLR>R<REEEAAEARAGPTER--------------- | 140 |
KCNG3 | FYNEMIYWGLEGAHLE----Y--CCQRRLD>D<RMSDTYTFYSADEPG--------------- | 133 |
KCNG4 | FQEELAYWGIEEAHLE----R--CCLRKLL>R<KLEELEELAKLHRED--------------- | 182 |
KCNS1 | FGQEADYWGLGENALA----A--CCRARYL>E<RRLTQ-PHAWDEDSD---------TPSSVD | 178 |
KCNS2 | FSQEIEYWGINEFFID----S--CCSYSYH>G<RKVEPEQEKWDEQSD---------QES-TT | 145 |
KCNS3 | FCQEIEYWGINELFID----S--CCSNRYQ>E<RKEENHEKDWDQKSH---------DVS-TD | 143 |
KCNV1 | FLQEIQYWGIDELSID----S--CCRDRYF>R<RKE-LSETLDFKKD----------T----- | 171 |
KCNV2 | FLEELGYWGVRLKYTP----R--CCRICFE>E<RRDELSERLKIQHE---------------- | 219 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.T96R | c.287C>G | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
Reports | Inherited Arrhythmia | LQTS | Prospective, population-based long QT molecular autopsy study of postmortem negative sudden death in 1 to 40 year olds. Heart Rhythm. 2011 8(3):412-9. 21070882 | ||
p.T96A | c.286A>G | Putative Benign | SIFT: tolerated Polyphen: benign |