No paralogue variants have been mapped to residue 86 for KCNQ1.
KCNQ1 | ---APPASPAAPAAPPVASDL---GPRPPV>S<L------DPRVSIYSTRRPVLARTH----- | 105 |
KCNQ2 | --------RGSILS----------KPRAGG>-<-AGAGK-PPKRNAFYRK------------- | 76 |
KCNQ3 | -QR---R----TPQ----------GIGL-L>A<KTPLSRPVKRNNAKYRR------------- | 106 |
KCNQ4 | -L------PPGAPLP---------GPGSGS>G<SACGQR-SSAAHKRYRR------------- | 82 |
KCNQ5 | -LRESRRGKQGARMS---------LLGKPL>-<SYTSSQ-SCRRNVKYRR------------- | 110 |
KCNA1 | QSGGRLRRPVNVPLDMFSEEIKFYELGEEA>M<E----K--FREDEGF--------------- | 136 |
KCNA10 | QSGGKIRRPANVPIDIFADEISFYELGSEA>M<D----Q--FREDEGF--------------- | 185 |
KCNA2 | QSGGRLRRPVNVPLDIFSEEIRFYELGEEA>M<E----M--FREDEGY--------------- | 132 |
KCNA3 | QSGGRIRRPVNVPIDIFSEEIRFYQLGEEA>M<E----K--FREDEGF--------------- | 203 |
KCNA4 | QSGGRLKRPVNVPFDIFTEEVKFYQLGEEA>L<L----K--FREDEGF--------------- | 275 |
KCNA5 | QSGGRLRRPVNVSLDVFADEIRFYQLGDEA>M<E----R--FREDEGF--------------- | 219 |
KCNA6 | QSGGRLRRPVNVPLDIFLEEIRFYQLGDEA>L<A----A--FREDEGC--------------- | 140 |
KCNA7 | QSGGRLRRPAHVPLDVFLEEVAFYGLGAAA>L<A----R--LREDEGC--------------- | 112 |
KCNB1 | RT-GRLHMMEEMCALSFSQELDYWGIDEIY>L<E----S--CCQARYHQKKEQMNEELKREAE | 153 |
KCNB2 | RT-GKLHMMEEMCALSFGQELDYWGIDEIY>L<E----S--CCQARYHQKKEQMNEELRREAE | 157 |
KCNC1 | RT-GKLHCPADVCGPLYEEELAFWGIDETD>V<E----P--CCWMTYRQHRDAEEALDSFGGA | 125 |
KCNC2 | RT-GKLHCPADVCGPLFEEELAFWGIDETD>V<E----P--CCWMTYRQHRDAEEALDIFETP | 172 |
KCNC3 | RT-GKLHCPADVCGPLFEEELGFWGIDETD>V<E----A--CCWMTYRQHRDAEEALDSFEAP | 205 |
KCNC4 | RT-GKLHCPADVCGPLFEEELTFWGIDETD>V<E----P--CCWMTYRQHRDAEEALDIFESP | 164 |
KCND1 | RT-GRLHCPRQECIQAFDEELAFYGLVPEL>V<G----D--CCLEEYRDRKKENAERLAEDEE | 152 |
KCND2 | RT-GKLHYPRHECISAYDEELAFFGLIPEI>I<G----D--CCYEEYKDRRRENAERLQDDAD | 153 |
KCND3 | RT-GKLHYPRYECISAYDDELAFYGILPEI>I<G----D--CCYEEYKDRKRENAERLMDDND | 152 |
KCNF1 | YF-GEVHMKKGICPICFKNEMDFWKVDLKF>L<D----D--CCKSHLSEKREELEEIARRVQL | 147 |
KCNG1 | RA-GKLRLLREMCALSFQEELLYWGIAEDH>L<D----G--CCKRRYLQKIEEFAEMVEREEE | 185 |
KCNG2 | RA-GKLRLLRGPCALAFRDELAYWGIDEAR>L<E----R--CCLRRLRRREEEAAEARAGPTE | 139 |
KCNG3 | RGHGKLRFAPRMCELSFYNEMIYWGLEGAH>L<E----Y--CCQRRLDDRMSDTYTFYSADEP | 132 |
KCNG4 | AA-GKLVLLQEMCALSFQEELAYWGIEEAH>L<E----R--CCLRKLLRKLEELEELAKLHRE | 181 |
KCNS1 | RT-GHLHVLDELCVFAFGQEADYWGLGENA>L<A----A--CCRARYLERRLTQ-PHAWDEDS | 171 |
KCNS2 | HT-GKLHVMAELCVFSFSQEIEYWGINEFF>I<D----S--CCSYSYHGRKVEPEQEKWDEQS | 139 |
KCNS3 | YT-GKLHVMEELCVFSFCQEIEYWGINELF>I<D----S--CCSNRYQERKEENHEKDWDQKS | 137 |
KCNV1 | RT-GRLHVMEQLCALSFLQEIQYWGIDELS>I<D----S--CCRDRYFRRKE-LSETLDFKKD | 170 |
KCNV2 | LS-GVLLVLDGLCPRRFLEELGYWGVRLKY>T<P----R--CCRICFEERRDELSERLKIQHE | 219 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S86R | c.258C>A | Putative Benign | SIFT: Polyphen: |