No paralogue variants have been mapped to residue 81 for KCNQ1.
KCNQ1 | --------APPASPAAPAAPPVASDL---G>P<RPPVSL------DPRVSIYSTRRPVLARTH | 105 |
KCNQ2 | -------------RGSILS----------K>P<RAGG--AGAGK-PPKRNAFYRK-------- | 76 |
KCNQ3 | G-----QR---R----TPQ----------G>I<GL-LAKTPLSRPVKRNNAKYRR-------- | 106 |
KCNQ4 | P-----L------PPGAPLP---------G>P<GSGSGSACGQR-SSAAHKRYRR-------- | 82 |
KCNQ5 | G-----LRESRRGKQGARMS---------L>L<GKPL-SYTSSQ-SCRRNVKYRR-------- | 110 |
KCNA1 | ILYYYQSGGRLRRPVNVPLDMFSEEIKFYE>L<GEEAME----K--FREDEGF---------- | 136 |
KCNA10 | ILYYYQSGGKIRRPANVPIDIFADEISFYE>L<GSEAMD----Q--FREDEGF---------- | 185 |
KCNA2 | ILYYYQSGGRLRRPVNVPLDIFSEEIRFYE>L<GEEAME----M--FREDEGY---------- | 132 |
KCNA3 | ILYYYQSGGRIRRPVNVPIDIFSEEIRFYQ>L<GEEAME----K--FREDEGF---------- | 203 |
KCNA4 | ILYYYQSGGRLKRPVNVPFDIFTEEVKFYQ>L<GEEALL----K--FREDEGF---------- | 275 |
KCNA5 | ILYYYQSGGRLRRPVNVSLDVFADEIRFYQ>L<GDEAME----R--FREDEGF---------- | 219 |
KCNA6 | ILYYYQSGGRLRRPVNVPLDIFLEEIRFYQ>L<GDEALA----A--FREDEGC---------- | 140 |
KCNA7 | VLYYYQSGGRLRRPAHVPLDVFLEEVAFYG>L<GAAALA----R--LREDEGC---------- | 112 |
KCNB1 | ILNFYRT-GRLHMMEEMCALSFSQELDYWG>I<DEIYLE----S--CCQARYHQKKEQMNEEL | 148 |
KCNB2 | ILNFYRT-GKLHMMEEMCALSFGQELDYWG>I<DEIYLE----S--CCQARYHQKKEQMNEEL | 152 |
KCNC1 | ILNYYRT-GKLHCPADVCGPLYEEELAFWG>I<DETDVE----P--CCWMTYRQHRDAEEALD | 120 |
KCNC2 | VLNYYRT-GKLHCPADVCGPLFEEELAFWG>I<DETDVE----P--CCWMTYRQHRDAEEALD | 167 |
KCNC3 | VLNYYRT-GKLHCPADVCGPLFEEELGFWG>I<DETDVE----A--CCWMTYRQHRDAEEALD | 200 |
KCNC4 | VLNYYRT-GKLHCPADVCGPLFEEELTFWG>I<DETDVE----P--CCWMTYRQHRDAEEALD | 159 |
KCND1 | VLNFYRT-GRLHCPRQECIQAFDEELAFYG>L<VPELVG----D--CCLEEYRDRKKENAERL | 147 |
KCND2 | ILNFYRT-GKLHYPRHECISAYDEELAFFG>L<IPEIIG----D--CCYEEYKDRRRENAERL | 148 |
KCND3 | VLNFYRT-GKLHYPRYECISAYDDELAFYG>I<LPEIIG----D--CCYEEYKDRKRENAERL | 147 |
KCNF1 | VIEVYYF-GEVHMKKGICPICFKNEMDFWK>V<DLKFLD----D--CCKSHLSEKREELEEIA | 142 |
KCNG1 | ILTFLRA-GKLRLLREMCALSFQEELLYWG>I<AEDHLD----G--CCKRRYLQKIEEFAEMV | 180 |
KCNG2 | IVALLRA-GKLRLLRGPCALAFRDELAYWG>I<DEARLE----R--CCLRRLRRREEEAAEAR | 134 |
KCNG3 | ILLYVRGHGKLRFAPRMCELSFYNEMIYWG>L<EGAHLE----Y--CCQRRLDDRMSDTYTFY | 127 |
KCNG4 | IVSFLAA-GKLVLLQEMCALSFQEELAYWG>I<EEAHLE----R--CCLRKLLRKLEELEELA | 176 |
KCNS1 | LLHFYRT-GHLHVLDELCVFAFGQEADYWG>L<GENALA----A--CCRARYLERRLTQ-PHA | 166 |
KCNS2 | VLHFYHT-GKLHVMAELCVFSFSQEIEYWG>I<NEFFID----S--CCSYSYHGRKVEPEQEK | 134 |
KCNS3 | VLNFYYT-GKLHVMEELCVFSFCQEIEYWG>I<NELFID----S--CCSNRYQERKEENHEKD | 132 |
KCNV1 | VLHYYRT-GRLHVMEQLCALSFLQEIQYWG>I<DELSID----S--CCRDRYFRRKE-LSETL | 165 |
KCNV2 | VYNFYLS-GVLLVLDGLCPRRFLEELGYWG>V<RLKYTP----R--CCRICFEERRDELSERL | 214 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P81L | c.242C>T | Putative Benign | SIFT: Polyphen: |