Paralogue Annotation for KCNQ1 residue 66

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 66
Reference Amino Acid: S - Serine
Protein Domain: N-terminus


Paralogue Variants mapped to KCNQ1 residue 66

No paralogue variants have been mapped to residue 66 for KCNQ1.



KCNQ1A--GGALYAPIAPGAPGP--------APPA>S<PAAPAAPPVASDL---GPRPPVSL------87
KCNQ2------------A-PK-------------->-<RGSILS----------KPRAGG--AGAGK-66
KCNQ3----------------DEG-----QR---R>-<---TPQ----------GIGL-LAKTPLSRP96
KCNQ4----------RRLGLLGSP-----L----->-<PPGAPLP---------GPGSGSGSACGQR-72
KCNQ5----------ATLGGGGGG-----LRESRR>G<KQGARMS---------LLGKPL-SYTSSQ-100
KCNA1DPLRNEYFFDRNRPSFDAILYYYQSGGRLR>R<PVNVPLDMFSEEIKFYELGEEAME----K-129
KCNA10DSMRNEYFFDRNRPSFDGILYYYQSGGKIR>R<PANVPIDIFADEISFYELGSEAMD----Q-178
KCNA2DPLRNEYFFDRNRPSFDAILYYYQSGGRLR>R<PVNVPLDIFSEEIRFYELGEEAME----M-125
KCNA3DPLRNEYFFDRNRPSFDAILYYYQSGGRIR>R<PVNVPIDIFSEEIRFYQLGEEAME----K-196
KCNA4DPLRNEYFFDRNRPSFDAILYYYQSGGRLK>R<PVNVPFDIFTEEVKFYQLGEEALL----K-268
KCNA5DPLRNEYFFDRNRPSFDGILYYYQSGGRLR>R<PVNVSLDVFADEIRFYQLGDEAME----R-212
KCNA6DPLRNEYFFDRNRPSFDAILYYYQSGGRLR>R<PVNVPLDIFLEEIRFYQLGDEALA----A-133
KCNA7DDARREYFFDRHRPSFDAVLYYYQSGGRLR>R<PAHVPLDVFLEEVAFYGLGAAALA----R-105
KCNB1SLDDNEYFFDRHPGAFTSILNFYRT-GRLH>M<MEEMCALSFSQELDYWGIDEIYLE----S-131
KCNB2NLNENEYFFDRHPGAFTSILNFYRT-GKLH>M<MEEMCALSFGQELDYWGIDEIYLE----S-135
KCNC1DPRADEFFFDRHPGVFAHILNYYRT-GKLH>C<PADVCGPLYEEELAFWGIDETDVE----P-103
KCNC2PGGGREFFFDRHPGVFAYVLNYYRT-GKLH>C<PADVCGPLFEEELAFWGIDETDVE----P-150
KCNC3DPGADEFFFDRHPGVFAYVLNYYRT-GKLH>C<PADVCGPLFEEELGFWGIDETDVE----A-183
KCNC4GGGGCEFFFDRHPGVFAYVLNYYRT-GKLH>C<PADVCGPLFEEELTFWGIDETDVE----P-142
KCND1DADSGEYFFDRDPDMFRHVLNFYRT-GRLH>C<PRQECIQAFDEELAFYGLVPELVG----D-130
KCND2HPETQQYFFDRDPDIFRHILNFYRT-GKLH>Y<PRHECISAYDEELAFFGLIPEIIG----D-131
KCND3NEDTKEYFFDRDPEVFRCVLNFYRT-GKLH>Y<PRYECISAYDDELAFYGILPEIIG----D-130
KCNF1DPGKREFYFDRDPDAFKCVIEVYYF-GEVH>M<KKGICPICFKNEMDFWKVDLKFLD----D-125
KCNG1DVTCNEFFFDRNPGAFGTILTFLRA-GKLR>L<LREMCALSFQEELLYWGIAEDHLD----G-163
KCNG2DVSRDEFFFDRSPCAFRAIVALLRA-GKLR>L<LRGPCALAFRDELAYWGIDEARLE----R-117
KCNG3DRERNEYFFDRHSEAFGFILLYVRGHGKLR>F<APRMCELSFYNEMIYWGLEGAHLE----Y-110
KCNG4DEDSQEFFFDRSPSAFGVIVSFLAA-GKLV>L<LQEMCALSFQEELAYWGIEEAHLE----R-159
KCNS1DEAAREFYFDRHPGFFLSLLHFYRT-GHLH>V<LDELCVFAFGQEADYWGLGENALA----A-150
KCNS2DDVQREFYFDRNPELFPYVLHFYHT-GKLH>V<MAELCVFSFSQEIEYWGINEFFID----S-117
KCNS3SVADKEYYFDRNPSLFRYVLNFYYT-GKLH>V<MEELCVFSFCQEIEYWGINELFID----S-115
KCNV1NPVDNEYFFDRSSQAFRYVLHYYRT-GRLH>V<MEQLCALSFLQEIQYWGIDELSID----S-149
KCNV2EEQTDEYFFDRDPAVFQLVYNFYLS-GVLL>V<LDGLCPRRFLEELGYWGVRLKYTP----R-197
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNQ1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.S66Fc.197C>T Inherited ArrhythmiaLQTSrs199473446SIFT: deleterious
Polyphen: benign
ReportsInherited ArrhythmiaLQTS Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085