No paralogue variants have been mapped to residue 76 for KCNQ1.
KCNQ1 | IAPGAPGP--------APPASPAAPAAPPV>A<SDL---GPRPPVSL------DPRVSIYSTR | 97 |
KCNQ2 | --A-PK---------------RGSILS--->-<------KPRAGG--AGAGK-PPKRNAFYRK | 76 |
KCNQ3 | ------DEG-----QR---R----TPQ--->-<------GIGL-LAKTPLSRPVKRNNAKYRR | 106 |
KCNQ4 | RRLGLLGSP-----L------PPGAPLP-->-<------GPGSGSGSACGQR-SSAAHKRYRR | 82 |
KCNQ5 | ATLGGGGGG-----LRESRRGKQGARMS-->-<------LLGKPL-SYTSSQ-SCRRNVKYRR | 110 |
KCNA1 | RNRPSFDAILYYYQSGGRLRRPVNVPLDMF>S<EEIKFYELGEEAME----K--FREDEGF-- | 136 |
KCNA10 | RNRPSFDGILYYYQSGGKIRRPANVPIDIF>A<DEISFYELGSEAMD----Q--FREDEGF-- | 185 |
KCNA2 | RNRPSFDAILYYYQSGGRLRRPVNVPLDIF>S<EEIRFYELGEEAME----M--FREDEGY-- | 132 |
KCNA3 | RNRPSFDAILYYYQSGGRIRRPVNVPIDIF>S<EEIRFYQLGEEAME----K--FREDEGF-- | 203 |
KCNA4 | RNRPSFDAILYYYQSGGRLKRPVNVPFDIF>T<EEVKFYQLGEEALL----K--FREDEGF-- | 275 |
KCNA5 | RNRPSFDGILYYYQSGGRLRRPVNVSLDVF>A<DEIRFYQLGDEAME----R--FREDEGF-- | 219 |
KCNA6 | RNRPSFDAILYYYQSGGRLRRPVNVPLDIF>L<EEIRFYQLGDEALA----A--FREDEGC-- | 140 |
KCNA7 | RHRPSFDAVLYYYQSGGRLRRPAHVPLDVF>L<EEVAFYGLGAAALA----R--LREDEGC-- | 112 |
KCNB1 | RHPGAFTSILNFYRT-GRLHMMEEMCALSF>S<QELDYWGIDEIYLE----S--CCQARYHQK | 140 |
KCNB2 | RHPGAFTSILNFYRT-GKLHMMEEMCALSF>G<QELDYWGIDEIYLE----S--CCQARYHQK | 144 |
KCNC1 | RHPGVFAHILNYYRT-GKLHCPADVCGPLY>E<EELAFWGIDETDVE----P--CCWMTYRQH | 112 |
KCNC2 | RHPGVFAYVLNYYRT-GKLHCPADVCGPLF>E<EELAFWGIDETDVE----P--CCWMTYRQH | 159 |
KCNC3 | RHPGVFAYVLNYYRT-GKLHCPADVCGPLF>E<EELGFWGIDETDVE----A--CCWMTYRQH | 192 |
KCNC4 | RHPGVFAYVLNYYRT-GKLHCPADVCGPLF>E<EELTFWGIDETDVE----P--CCWMTYRQH | 151 |
KCND1 | RDPDMFRHVLNFYRT-GRLHCPRQECIQAF>D<EELAFYGLVPELVG----D--CCLEEYRDR | 139 |
KCND2 | RDPDIFRHILNFYRT-GKLHYPRHECISAY>D<EELAFFGLIPEIIG----D--CCYEEYKDR | 140 |
KCND3 | RDPEVFRCVLNFYRT-GKLHYPRYECISAY>D<DELAFYGILPEIIG----D--CCYEEYKDR | 139 |
KCNF1 | RDPDAFKCVIEVYYF-GEVHMKKGICPICF>K<NEMDFWKVDLKFLD----D--CCKSHLSEK | 134 |
KCNG1 | RNPGAFGTILTFLRA-GKLRLLREMCALSF>Q<EELLYWGIAEDHLD----G--CCKRRYLQK | 172 |
KCNG2 | RSPCAFRAIVALLRA-GKLRLLRGPCALAF>R<DELAYWGIDEARLE----R--CCLRRLRRR | 126 |
KCNG3 | RHSEAFGFILLYVRGHGKLRFAPRMCELSF>Y<NEMIYWGLEGAHLE----Y--CCQRRLDDR | 119 |
KCNG4 | RSPSAFGVIVSFLAA-GKLVLLQEMCALSF>Q<EELAYWGIEEAHLE----R--CCLRKLLRK | 168 |
KCNS1 | RHPGFFLSLLHFYRT-GHLHVLDELCVFAF>G<QEADYWGLGENALA----A--CCRARYLER | 159 |
KCNS2 | RNPELFPYVLHFYHT-GKLHVMAELCVFSF>S<QEIEYWGINEFFID----S--CCSYSYHGR | 126 |
KCNS3 | RNPSLFRYVLNFYYT-GKLHVMEELCVFSF>C<QEIEYWGINELFID----S--CCSNRYQER | 124 |
KCNV1 | RSSQAFRYVLHYYRT-GRLHVMEQLCALSF>L<QEIQYWGIDELSID----S--CCRDRYFRR | 158 |
KCNV2 | RDPAVFQLVYNFYLS-GVLLVLDGLCPRRF>L<EELGYWGVRLKYTP----R--CCRICFEER | 206 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A76T | c.226G>A | Putative Benign | SIFT: Polyphen: |