No paralogue variants have been mapped to residue 70 for KCNQ1.
KCNQ1 | GALYAPIAPGAPGP--------APPASPAA>P<AAPPVASDL---GPRPPVSL------DPRV | 91 |
KCNQ2 | --------A-PK---------------RGS>I<LS----------KPRAGG--AGAGK-PPKR | 70 |
KCNQ3 | ------------DEG-----QR---R---->T<PQ----------GIGL-LAKTPLSRPVKRN | 100 |
KCNQ4 | ------RRLGLLGSP-----L------PPG>A<PLP---------GPGSGSGSACGQR-SSAA | 76 |
KCNQ5 | ------ATLGGGGGG-----LRESRRGKQG>A<RMS---------LLGKPL-SYTSSQ-SCRR | 104 |
KCNA1 | NEYFFDRNRPSFDAILYYYQSGGRLRRPVN>V<PLDMFSEEIKFYELGEEAME----K--FRE | 132 |
KCNA10 | NEYFFDRNRPSFDGILYYYQSGGKIRRPAN>V<PIDIFADEISFYELGSEAMD----Q--FRE | 181 |
KCNA2 | NEYFFDRNRPSFDAILYYYQSGGRLRRPVN>V<PLDIFSEEIRFYELGEEAME----M--FRE | 128 |
KCNA3 | NEYFFDRNRPSFDAILYYYQSGGRIRRPVN>V<PIDIFSEEIRFYQLGEEAME----K--FRE | 199 |
KCNA4 | NEYFFDRNRPSFDAILYYYQSGGRLKRPVN>V<PFDIFTEEVKFYQLGEEALL----K--FRE | 271 |
KCNA5 | NEYFFDRNRPSFDGILYYYQSGGRLRRPVN>V<SLDVFADEIRFYQLGDEAME----R--FRE | 215 |
KCNA6 | NEYFFDRNRPSFDAILYYYQSGGRLRRPVN>V<PLDIFLEEIRFYQLGDEALA----A--FRE | 136 |
KCNA7 | REYFFDRHRPSFDAVLYYYQSGGRLRRPAH>V<PLDVFLEEVAFYGLGAAALA----R--LRE | 108 |
KCNB1 | NEYFFDRHPGAFTSILNFYRT-GRLHMMEE>M<CALSFSQELDYWGIDEIYLE----S--CCQ | 134 |
KCNB2 | NEYFFDRHPGAFTSILNFYRT-GKLHMMEE>M<CALSFGQELDYWGIDEIYLE----S--CCQ | 138 |
KCNC1 | DEFFFDRHPGVFAHILNYYRT-GKLHCPAD>V<CGPLYEEELAFWGIDETDVE----P--CCW | 106 |
KCNC2 | REFFFDRHPGVFAYVLNYYRT-GKLHCPAD>V<CGPLFEEELAFWGIDETDVE----P--CCW | 153 |
KCNC3 | DEFFFDRHPGVFAYVLNYYRT-GKLHCPAD>V<CGPLFEEELGFWGIDETDVE----A--CCW | 186 |
KCNC4 | CEFFFDRHPGVFAYVLNYYRT-GKLHCPAD>V<CGPLFEEELTFWGIDETDVE----P--CCW | 145 |
KCND1 | GEYFFDRDPDMFRHVLNFYRT-GRLHCPRQ>E<CIQAFDEELAFYGLVPELVG----D--CCL | 133 |
KCND2 | QQYFFDRDPDIFRHILNFYRT-GKLHYPRH>E<CISAYDEELAFFGLIPEIIG----D--CCY | 134 |
KCND3 | KEYFFDRDPEVFRCVLNFYRT-GKLHYPRY>E<CISAYDDELAFYGILPEIIG----D--CCY | 133 |
KCNF1 | REFYFDRDPDAFKCVIEVYYF-GEVHMKKG>I<CPICFKNEMDFWKVDLKFLD----D--CCK | 128 |
KCNG1 | NEFFFDRNPGAFGTILTFLRA-GKLRLLRE>M<CALSFQEELLYWGIAEDHLD----G--CCK | 166 |
KCNG2 | DEFFFDRSPCAFRAIVALLRA-GKLRLLRG>P<CALAFRDELAYWGIDEARLE----R--CCL | 120 |
KCNG3 | NEYFFDRHSEAFGFILLYVRGHGKLRFAPR>M<CELSFYNEMIYWGLEGAHLE----Y--CCQ | 113 |
KCNG4 | QEFFFDRSPSAFGVIVSFLAA-GKLVLLQE>M<CALSFQEELAYWGIEEAHLE----R--CCL | 162 |
KCNS1 | REFYFDRHPGFFLSLLHFYRT-GHLHVLDE>L<CVFAFGQEADYWGLGENALA----A--CCR | 153 |
KCNS2 | REFYFDRNPELFPYVLHFYHT-GKLHVMAE>L<CVFSFSQEIEYWGINEFFID----S--CCS | 120 |
KCNS3 | KEYYFDRNPSLFRYVLNFYYT-GKLHVMEE>L<CVFSFCQEIEYWGINELFID----S--CCS | 118 |
KCNV1 | NEYFFDRSSQAFRYVLHYYRT-GRLHVMEQ>L<CALSFLQEIQYWGIDELSID----S--CCR | 152 |
KCNV2 | DEYFFDRDPAVFQLVYNFYLS-GVLLVLDG>L<CPRRFLEELGYWGVRLKYTP----R--CCR | 200 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Pro70Thr | c.208C>A | Unknown | SIFT: Polyphen: |