Paralogue Annotation for KCNQ1 residue 267

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 267
Reference Amino Acid: Y - Tyrosine
Protein Domain: Transmembrane/Linker/Pore

Paralogue Variants mapped to KCNQ1 residue 267

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
KCNQ2	Y237C	Epileptic encephalopathy, early infantile	High	9	25131622, 25356970, 26795593

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in KCNQ1.

KCNQ1	RMLHVDRQGGTWRLLGSVVFIHRQELITTL>Y<IGFLGLIFSSYFVYLAEKDAVN-----ESG	292
KCNQ2	RMIRMDRRGGTWKLLGSVVYAHSKELVTAW>Y<IGFLCLILASFLVYLAEKGE----------	257
KCNQ3	RMLRMDRRGGTWKLLGSAICAHSKELITAW>Y<IGFLTLILSSFLVYLVEKDVPEVDAQGEEM	296
KCNQ4	RMVRMDRRGGTWKLLGSVVYAHSKELITAW>Y<IGFLVLIFASFLVYLAEKDA----------	263
KCNQ5	RMVRMDRRGGTWKLLGSVVYAHSKELITAW>Y<IGFLVLIFSSFLVYLVEKDA----------	291
KCNA1	RIFKLSRHSKGLQILGQTLKASMRELGLLI>F<FLFIGVILFSSAVYFAEAEE---------A	352
KCNA10	RIFKLSRHSKGLQILGQTLKASMRELGLLI>F<FLFIGVILFSSAVYFAEVDE---------P	401
KCNA2	RIFKLSRHSKGLQILGQTLKASMRELGLLI>F<FLFIGVILFSSAVYFAEADE---------R	354
KCNA3	RIFKLSRHSKGLQILGQTLKASMRELGLLI>F<FLFIGVILFSSAVYFAEADD---------P	424
KCNA4	RIFKLSRHSKGLQILGHTLRASMRELGLLI>F<FLFIGVILFSSAVYFAEADE---------P	504
KCNA5	RIFKLSRHSKGLQILGKTLQASMRELGLLI>F<FLFIGVILFSSAVYFAEADN---------Q	460
KCNA6	RIFKLSRHSKGLQILGKTLQASMRELGLLI>F<FLFIGVILFSSAVYFAEADD---------D	402
KCNA7	RIFKLSRHSKGLQILGQTLRASMRELGLLI>F<FLFIGVVLFSSAVYFAEVDR---------V	338
KCNB1	RILKLARHSTGLQSLGFTLRRSYNELGLLI>L<FLAMGIMIFSSLVFFAEKDE---------D	357
KCNB2	RILKLARHSTGLQSLGFTLRRSYNELGLLI>L<FLAMGIMIFSSLVFFAEKDE---------D	361
KCNC1	RIFKLTRHFVGLRVLGHTLRASTNEFLLLI>I<FLALGVLIFATMIYYAERIGAQPNDPSASE	380
KCNC2	RIFKLTRHFVGLRVLGHTLRASTNEFLLLI>I<FLALGVLIFATMIYYAERVGAQPNDPSASE	417
KCNC3	RIFKLTRHFVGLRVLGHTLRASTNEFLLLI>I<FLALGVLIFATMIYYAERIGADPDDILGSN	483
KCNC4	RIFKLTRHFVGLRVLGHTLRASTNEFLLLI>I<FLALGVLIFATMIYYAERIGARPSDPRGND	416
KCND1	RIFKFSRHSQGLRILGYTLKSCASELGFLL>F<SLTMAIIIFATVMFYAEKGT---------N	352
KCND2	RIFKFSRHSQGLRILGYTLKSCASELGFLL>F<SLTMAIIIFATVMFYAEKGS---------S	350
KCND3	RIFKFSRHSQGLRILGYTLKSCASELGFLL>F<SLTMAIIIFATVMFYAEKGS---------S	347
KCNF1	RIFKLARHSSGLQTLTYALKRSFKELGLLL>M<YLAVGIFVFSALGYTMEQSH---------P	350
KCNG1	YVMRLARHSLGLQTLGLTARRCTREFGLLL>L<FLCVAIALFAPLLYVIENEM-----A---D	404
KCNG2	YVMRLARHSLGLRSLGLTMRRCAREFGLLL>L<FLCVAMALFAPLVHLAEREL-----G---A	349
KCNG3	WVIKLARHFIGLQTLGLTLKRCYREMVMLL>V<FICVAMAIFSALSQLLEHGL-----DLETS	353
KCNG4	YVMRLARHSLGLQTLGLTVRRCTREFGLLL>L<FLAVAITLFSPLVYVAEKES-----G---R	398
KCNS1	RVLKLARHSTGLRSLGATLKHSYREVGILL>L<YLAVGVSVFSGVAYTAEKEE----------	401
KCNS2	RILKLARHSTGLRSLGATLKYSYKEVGLLL>L<YLSVGISIFSVVAYTIEKEE----------	354
KCNS3	RILKLARHSVGLRSLGATLRHSYHEVGLLL>L<FLSVGISIFSVLIYSVEKDD---------H	350
KCNV1	RMLKLGRHSTGLRSLGMTITQCYEEVGLLL>L<FLSVGISIFSTVEYFAEQSI---------P	372
KCNV2	RILKLARHSTGLRAFGFTLRQCYQQVGCLL>L<FIAMGIFTFSAAVYSVEHDV---------P	437
cons	> <

See full Alignment of Paralogues

Known Variants in KCNQ1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Tyr267Phe	c.800A>T	Unknown			SIFT: Polyphen: