No paralogue variants have been mapped to residue 64 for KCNQ1.
KCNQ1 | --A--GGALYAPIAPGAPGP--------AP>P<ASPAAPAAPPVASDL---GPRPPVSL---- | 87 |
KCNQ2 | --------------A-PK------------>-<--RGSILS----------KPRAGG--AGAG | 65 |
KCNQ3 | ------------------DEG-----QR-->-<R----TPQ----------GIGL-LAKTPLS | 94 |
KCNQ4 | ------------RRLGLLGSP-----L--->-<--PPGAPLP---------GPGSGSGSACGQ | 71 |
KCNQ5 | ------------ATLGGGGGG-----LRES>R<RGKQGARMS---------LLGKPL-SYTSS | 99 |
KCNA1 | YFDPLRNEYFFDRNRPSFDAILYYYQSGGR>L<RRPVNVPLDMFSEEIKFYELGEEAME---- | 128 |
KCNA10 | FFDSMRNEYFFDRNRPSFDGILYYYQSGGK>I<RRPANVPIDIFADEISFYELGSEAMD---- | 177 |
KCNA2 | YFDPLRNEYFFDRNRPSFDAILYYYQSGGR>L<RRPVNVPLDIFSEEIRFYELGEEAME---- | 124 |
KCNA3 | YFDPLRNEYFFDRNRPSFDAILYYYQSGGR>I<RRPVNVPIDIFSEEIRFYQLGEEAME---- | 195 |
KCNA4 | YFDPLRNEYFFDRNRPSFDAILYYYQSGGR>L<KRPVNVPFDIFTEEVKFYQLGEEALL---- | 267 |
KCNA5 | YFDPLRNEYFFDRNRPSFDGILYYYQSGGR>L<RRPVNVSLDVFADEIRFYQLGDEAME---- | 211 |
KCNA6 | FFDPLRNEYFFDRNRPSFDAILYYYQSGGR>L<RRPVNVPLDIFLEEIRFYQLGDEALA---- | 132 |
KCNA7 | FYDDARREYFFDRHRPSFDAVLYYYQSGGR>L<RRPAHVPLDVFLEEVAFYGLGAAALA---- | 104 |
KCNB1 | DYSLDDNEYFFDRHPGAFTSILNFYRT-GR>L<HMMEEMCALSFSQELDYWGIDEIYLE---- | 130 |
KCNB2 | DYNLNENEYFFDRHPGAFTSILNFYRT-GK>L<HMMEEMCALSFGQELDYWGIDEIYLE---- | 134 |
KCNC1 | DYDPRADEFFFDRHPGVFAHILNYYRT-GK>L<HCPADVCGPLYEEELAFWGIDETDVE---- | 102 |
KCNC2 | DHPGGGREFFFDRHPGVFAYVLNYYRT-GK>L<HCPADVCGPLFEEELAFWGIDETDVE---- | 149 |
KCNC3 | DYDPGADEFFFDRHPGVFAYVLNYYRT-GK>L<HCPADVCGPLFEEELGFWGIDETDVE---- | 182 |
KCNC4 | SSGGGGCEFFFDRHPGVFAYVLNYYRT-GK>L<HCPADVCGPLFEEELTFWGIDETDVE---- | 141 |
KCND1 | FYDADSGEYFFDRDPDMFRHVLNFYRT-GR>L<HCPRQECIQAFDEELAFYGLVPELVG---- | 129 |
KCND2 | FYHPETQQYFFDRDPDIFRHILNFYRT-GK>L<HYPRHECISAYDEELAFFGLIPEIIG---- | 130 |
KCND3 | FFNEDTKEYFFDRDPEVFRCVLNFYRT-GK>L<HYPRYECISAYDDELAFYGILPEIIG---- | 129 |
KCNF1 | DYDPGKREFYFDRDPDAFKCVIEVYYF-GE>V<HMKKGICPICFKNEMDFWKVDLKFLD---- | 124 |
KCNG1 | DYDVTCNEFFFDRNPGAFGTILTFLRA-GK>L<RLLREMCALSFQEELLYWGIAEDHLD---- | 162 |
KCNG2 | DYDVSRDEFFFDRSPCAFRAIVALLRA-GK>L<RLLRGPCALAFRDELAYWGIDEARLE---- | 116 |
KCNG3 | DYDRERNEYFFDRHSEAFGFILLYVRGHGK>L<RFAPRMCELSFYNEMIYWGLEGAHLE---- | 109 |
KCNG4 | DYDEDSQEFFFDRSPSAFGVIVSFLAA-GK>L<VLLQEMCALSFQEELAYWGIEEAHLE---- | 158 |
KCNS1 | DYDEAAREFYFDRHPGFFLSLLHFYRT-GH>L<HVLDELCVFAFGQEADYWGLGENALA---- | 149 |
KCNS2 | DYDDVQREFYFDRNPELFPYVLHFYHT-GK>L<HVMAELCVFSFSQEIEYWGINEFFID---- | 116 |
KCNS3 | DYSVADKEYYFDRNPSLFRYVLNFYYT-GK>L<HVMEELCVFSFCQEIEYWGINELFID---- | 114 |
KCNV1 | DANPVDNEYFFDRSSQAFRYVLHYYRT-GR>L<HVMEQLCALSFLQEIQYWGIDELSID---- | 148 |
KCNV2 | DYEEQTDEYFFDRDPAVFQLVYNFYLS-GV>L<LVLDGLCPRRFLEELGYWGVRLKYTP---- | 196 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P64H | c.191C>A | Putative Benign | rs2522018 | SIFT: deleterious Polyphen: possibly damaging |