No paralogue variants have been mapped to residue 77 for KCNQ1.
KCNQ1 | APGAPGP--------APPASPAAPAAPPVA>S<DL---GPRPPVSL------DPRVSIYSTRR | 98 |
KCNQ2 | -A-PK---------------RGSILS---->-<-----KPRAGG--AGAGK-PPKRNAFYRK- | 76 |
KCNQ3 | -----DEG-----QR---R----TPQ---->-<-----GIGL-LAKTPLSRPVKRNNAKYRR- | 106 |
KCNQ4 | RLGLLGSP-----L------PPGAPLP--->-<-----GPGSGSGSACGQR-SSAAHKRYRR- | 82 |
KCNQ5 | TLGGGGGG-----LRESRRGKQGARMS--->-<-----LLGKPL-SYTSSQ-SCRRNVKYRR- | 110 |
KCNA1 | NRPSFDAILYYYQSGGRLRRPVNVPLDMFS>E<EIKFYELGEEAME----K--FREDEGF--- | 136 |
KCNA10 | NRPSFDGILYYYQSGGKIRRPANVPIDIFA>D<EISFYELGSEAMD----Q--FREDEGF--- | 185 |
KCNA2 | NRPSFDAILYYYQSGGRLRRPVNVPLDIFS>E<EIRFYELGEEAME----M--FREDEGY--- | 132 |
KCNA3 | NRPSFDAILYYYQSGGRIRRPVNVPIDIFS>E<EIRFYQLGEEAME----K--FREDEGF--- | 203 |
KCNA4 | NRPSFDAILYYYQSGGRLKRPVNVPFDIFT>E<EVKFYQLGEEALL----K--FREDEGF--- | 275 |
KCNA5 | NRPSFDGILYYYQSGGRLRRPVNVSLDVFA>D<EIRFYQLGDEAME----R--FREDEGF--- | 219 |
KCNA6 | NRPSFDAILYYYQSGGRLRRPVNVPLDIFL>E<EIRFYQLGDEALA----A--FREDEGC--- | 140 |
KCNA7 | HRPSFDAVLYYYQSGGRLRRPAHVPLDVFL>E<EVAFYGLGAAALA----R--LREDEGC--- | 112 |
KCNB1 | HPGAFTSILNFYRT-GRLHMMEEMCALSFS>Q<ELDYWGIDEIYLE----S--CCQARYHQKK | 141 |
KCNB2 | HPGAFTSILNFYRT-GKLHMMEEMCALSFG>Q<ELDYWGIDEIYLE----S--CCQARYHQKK | 145 |
KCNC1 | HPGVFAHILNYYRT-GKLHCPADVCGPLYE>E<ELAFWGIDETDVE----P--CCWMTYRQHR | 113 |
KCNC2 | HPGVFAYVLNYYRT-GKLHCPADVCGPLFE>E<ELAFWGIDETDVE----P--CCWMTYRQHR | 160 |
KCNC3 | HPGVFAYVLNYYRT-GKLHCPADVCGPLFE>E<ELGFWGIDETDVE----A--CCWMTYRQHR | 193 |
KCNC4 | HPGVFAYVLNYYRT-GKLHCPADVCGPLFE>E<ELTFWGIDETDVE----P--CCWMTYRQHR | 152 |
KCND1 | DPDMFRHVLNFYRT-GRLHCPRQECIQAFD>E<ELAFYGLVPELVG----D--CCLEEYRDRK | 140 |
KCND2 | DPDIFRHILNFYRT-GKLHYPRHECISAYD>E<ELAFFGLIPEIIG----D--CCYEEYKDRR | 141 |
KCND3 | DPEVFRCVLNFYRT-GKLHYPRYECISAYD>D<ELAFYGILPEIIG----D--CCYEEYKDRK | 140 |
KCNF1 | DPDAFKCVIEVYYF-GEVHMKKGICPICFK>N<EMDFWKVDLKFLD----D--CCKSHLSEKR | 135 |
KCNG1 | NPGAFGTILTFLRA-GKLRLLREMCALSFQ>E<ELLYWGIAEDHLD----G--CCKRRYLQKI | 173 |
KCNG2 | SPCAFRAIVALLRA-GKLRLLRGPCALAFR>D<ELAYWGIDEARLE----R--CCLRRLRRRE | 127 |
KCNG3 | HSEAFGFILLYVRGHGKLRFAPRMCELSFY>N<EMIYWGLEGAHLE----Y--CCQRRLDDRM | 120 |
KCNG4 | SPSAFGVIVSFLAA-GKLVLLQEMCALSFQ>E<ELAYWGIEEAHLE----R--CCLRKLLRKL | 169 |
KCNS1 | HPGFFLSLLHFYRT-GHLHVLDELCVFAFG>Q<EADYWGLGENALA----A--CCRARYLERR | 160 |
KCNS2 | NPELFPYVLHFYHT-GKLHVMAELCVFSFS>Q<EIEYWGINEFFID----S--CCSYSYHGRK | 127 |
KCNS3 | NPSLFRYVLNFYYT-GKLHVMEELCVFSFC>Q<EIEYWGINELFID----S--CCSNRYQERK | 125 |
KCNV1 | SSQAFRYVLHYYRT-GRLHVMEQLCALSFL>Q<EIQYWGIDELSID----S--CCRDRYFRRK | 159 |
KCNV2 | DPAVFQLVYNFYLS-GVLLVLDGLCPRRFL>E<ELGYWGVRLKYTP----R--CCRICFEERR | 207 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S77F | c.230C>T | Putative Benign | SIFT: Polyphen: |