No paralogue variants have been mapped to residue 83 for KCNQ1.
| KCNQ1 | ------APPASPAAPAAPPVASDL---GPR>P<PVSL------DPRVSIYSTRRPVLARTH-- | 105 |
| KCNQ2 | -----------RGSILS----------KPR>A<GG--AGAGK-PPKRNAFYRK---------- | 76 |
| KCNQ3 | ----QR---R----TPQ----------GIG>L<-LAKTPLSRPVKRNNAKYRR---------- | 106 |
| KCNQ4 | ----L------PPGAPLP---------GPG>S<GSGSACGQR-SSAAHKRYRR---------- | 82 |
| KCNQ5 | ----LRESRRGKQGARMS---------LLG>K<PL-SYTSSQ-SCRRNVKYRR---------- | 110 |
| KCNA1 | YYYQSGGRLRRPVNVPLDMFSEEIKFYELG>E<EAME----K--FREDEGF------------ | 136 |
| KCNA10 | YYYQSGGKIRRPANVPIDIFADEISFYELG>S<EAMD----Q--FREDEGF------------ | 185 |
| KCNA2 | YYYQSGGRLRRPVNVPLDIFSEEIRFYELG>E<EAME----M--FREDEGY------------ | 132 |
| KCNA3 | YYYQSGGRIRRPVNVPIDIFSEEIRFYQLG>E<EAME----K--FREDEGF------------ | 203 |
| KCNA4 | YYYQSGGRLKRPVNVPFDIFTEEVKFYQLG>E<EALL----K--FREDEGF------------ | 275 |
| KCNA5 | YYYQSGGRLRRPVNVSLDVFADEIRFYQLG>D<EAME----R--FREDEGF------------ | 219 |
| KCNA6 | YYYQSGGRLRRPVNVPLDIFLEEIRFYQLG>D<EALA----A--FREDEGC------------ | 140 |
| KCNA7 | YYYQSGGRLRRPAHVPLDVFLEEVAFYGLG>A<AALA----R--LREDEGC------------ | 112 |
| KCNB1 | NFYRT-GRLHMMEEMCALSFSQELDYWGID>E<IYLE----S--CCQARYHQKKEQMNEELKR | 150 |
| KCNB2 | NFYRT-GKLHMMEEMCALSFGQELDYWGID>E<IYLE----S--CCQARYHQKKEQMNEELRR | 154 |
| KCNC1 | NYYRT-GKLHCPADVCGPLYEEELAFWGID>E<TDVE----P--CCWMTYRQHRDAEEALDSF | 122 |
| KCNC2 | NYYRT-GKLHCPADVCGPLFEEELAFWGID>E<TDVE----P--CCWMTYRQHRDAEEALDIF | 169 |
| KCNC3 | NYYRT-GKLHCPADVCGPLFEEELGFWGID>E<TDVE----A--CCWMTYRQHRDAEEALDSF | 202 |
| KCNC4 | NYYRT-GKLHCPADVCGPLFEEELTFWGID>E<TDVE----P--CCWMTYRQHRDAEEALDIF | 161 |
| KCND1 | NFYRT-GRLHCPRQECIQAFDEELAFYGLV>P<ELVG----D--CCLEEYRDRKKENAERLAE | 149 |
| KCND2 | NFYRT-GKLHYPRHECISAYDEELAFFGLI>P<EIIG----D--CCYEEYKDRRRENAERLQD | 150 |
| KCND3 | NFYRT-GKLHYPRYECISAYDDELAFYGIL>P<EIIG----D--CCYEEYKDRKRENAERLMD | 149 |
| KCNF1 | EVYYF-GEVHMKKGICPICFKNEMDFWKVD>L<KFLD----D--CCKSHLSEKREELEEIARR | 144 |
| KCNG1 | TFLRA-GKLRLLREMCALSFQEELLYWGIA>E<DHLD----G--CCKRRYLQKIEEFAEMVER | 182 |
| KCNG2 | ALLRA-GKLRLLRGPCALAFRDELAYWGID>E<ARLE----R--CCLRRLRRREEEAAEARAG | 136 |
| KCNG3 | LYVRGHGKLRFAPRMCELSFYNEMIYWGLE>G<AHLE----Y--CCQRRLDDRMSDTYTFYSA | 129 |
| KCNG4 | SFLAA-GKLVLLQEMCALSFQEELAYWGIE>E<AHLE----R--CCLRKLLRKLEELEELAKL | 178 |
| KCNS1 | HFYRT-GHLHVLDELCVFAFGQEADYWGLG>E<NALA----A--CCRARYLERRLTQ-PHAWD | 168 |
| KCNS2 | HFYHT-GKLHVMAELCVFSFSQEIEYWGIN>E<FFID----S--CCSYSYHGRKVEPEQEKWD | 136 |
| KCNS3 | NFYYT-GKLHVMEELCVFSFCQEIEYWGIN>E<LFID----S--CCSNRYQERKEENHEKDWD | 134 |
| KCNV1 | HYYRT-GRLHVMEQLCALSFLQEIQYWGID>E<LSID----S--CCRDRYFRRKE-LSETLDF | 167 |
| KCNV2 | NFYLS-GVLLVLDGLCPRRFLEELGYWGVR>L<KYTP----R--CCRICFEERRDELSERLKI | 216 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.P83S | c.247C>T | Putative Benign | SIFT: Polyphen: |