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.

KCNQ1	A--GGALYAPIAPGAPGP--------APPA>S<PAAPAAPPVASDL---GPRPPVSL------	87
KCNQ2	------------A-PK-------------->-<RGSILS----------KPRAGG--AGAGK-	66
KCNQ3	----------------DEG-----QR---R>-<---TPQ----------GIGL-LAKTPLSRP	96
KCNQ4	----------RRLGLLGSP-----L----->-<PPGAPLP---------GPGSGSGSACGQR-	72
KCNQ5	----------ATLGGGGGG-----LRESRR>G<KQGARMS---------LLGKPL-SYTSSQ-	100
KCNA1	DPLRNEYFFDRNRPSFDAILYYYQSGGRLR>R<PVNVPLDMFSEEIKFYELGEEAME----K-	129
KCNA10	DSMRNEYFFDRNRPSFDGILYYYQSGGKIR>R<PANVPIDIFADEISFYELGSEAMD----Q-	178
KCNA2	DPLRNEYFFDRNRPSFDAILYYYQSGGRLR>R<PVNVPLDIFSEEIRFYELGEEAME----M-	125
KCNA3	DPLRNEYFFDRNRPSFDAILYYYQSGGRIR>R<PVNVPIDIFSEEIRFYQLGEEAME----K-	196
KCNA4	DPLRNEYFFDRNRPSFDAILYYYQSGGRLK>R<PVNVPFDIFTEEVKFYQLGEEALL----K-	268
KCNA5	DPLRNEYFFDRNRPSFDGILYYYQSGGRLR>R<PVNVSLDVFADEIRFYQLGDEAME----R-	212
KCNA6	DPLRNEYFFDRNRPSFDAILYYYQSGGRLR>R<PVNVPLDIFLEEIRFYQLGDEALA----A-	133
KCNA7	DDARREYFFDRHRPSFDAVLYYYQSGGRLR>R<PAHVPLDVFLEEVAFYGLGAAALA----R-	105
KCNB1	SLDDNEYFFDRHPGAFTSILNFYRT-GRLH>M<MEEMCALSFSQELDYWGIDEIYLE----S-	131
KCNB2	NLNENEYFFDRHPGAFTSILNFYRT-GKLH>M<MEEMCALSFGQELDYWGIDEIYLE----S-	135
KCNC1	DPRADEFFFDRHPGVFAHILNYYRT-GKLH>C<PADVCGPLYEEELAFWGIDETDVE----P-	103
KCNC2	PGGGREFFFDRHPGVFAYVLNYYRT-GKLH>C<PADVCGPLFEEELAFWGIDETDVE----P-	150
KCNC3	DPGADEFFFDRHPGVFAYVLNYYRT-GKLH>C<PADVCGPLFEEELGFWGIDETDVE----A-	183
KCNC4	GGGGCEFFFDRHPGVFAYVLNYYRT-GKLH>C<PADVCGPLFEEELTFWGIDETDVE----P-	142
KCND1	DADSGEYFFDRDPDMFRHVLNFYRT-GRLH>C<PRQECIQAFDEELAFYGLVPELVG----D-	130
KCND2	HPETQQYFFDRDPDIFRHILNFYRT-GKLH>Y<PRHECISAYDEELAFFGLIPEIIG----D-	131
KCND3	NEDTKEYFFDRDPEVFRCVLNFYRT-GKLH>Y<PRYECISAYDDELAFYGILPEIIG----D-	130
KCNF1	DPGKREFYFDRDPDAFKCVIEVYYF-GEVH>M<KKGICPICFKNEMDFWKVDLKFLD----D-	125
KCNG1	DVTCNEFFFDRNPGAFGTILTFLRA-GKLR>L<LREMCALSFQEELLYWGIAEDHLD----G-	163
KCNG2	DVSRDEFFFDRSPCAFRAIVALLRA-GKLR>L<LRGPCALAFRDELAYWGIDEARLE----R-	117
KCNG3	DRERNEYFFDRHSEAFGFILLYVRGHGKLR>F<APRMCELSFYNEMIYWGLEGAHLE----Y-	110
KCNG4	DEDSQEFFFDRSPSAFGVIVSFLAA-GKLV>L<LQEMCALSFQEELAYWGIEEAHLE----R-	159
KCNS1	DEAAREFYFDRHPGFFLSLLHFYRT-GHLH>V<LDELCVFAFGQEADYWGLGENALA----A-	150
KCNS2	DDVQREFYFDRNPELFPYVLHFYHT-GKLH>V<MAELCVFSFSQEIEYWGINEFFID----S-	117
KCNS3	SVADKEYYFDRNPSLFRYVLNFYYT-GKLH>V<MEELCVFSFCQEIEYWGINELFID----S-	115
KCNV1	NPVDNEYFFDRSSQAFRYVLHYYRT-GRLH>V<MEQLCALSFLQEIQYWGIDELSID----S-	149
KCNV2	EEQTDEYFFDRDPAVFQLVYNFYLS-GVLL>V<LDGLCPRRFLEELGYWGVRLKYTP----R-	197
cons	> <

See full Alignment of Paralogues

Known Variants in KCNQ1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S66F	c.197C>T	Inherited Arrhythmia	LQTS	rs199473446	SIFT: deleterious Polyphen: benign
Reports		Inherited Arrhythmia	LQTS	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