Paralogue Annotation for KCNQ1 residue 286

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 286
Reference Amino Acid: D - Aspartate
Protein Domain: Transmembrane/Linker/Pore

Paralogue Variants mapped to KCNQ1 residue 286

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
KCNQ4	D262V	Deafness, autosomal dominant 2	High	8	18941426
KCND3	G345V	Spinocerebellar ataxia 22	Medium	8	23280837

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	FIHRQELITTLYIGFLGLIFSSYFVYLAEK>D<AVN-----ESGRVEFGSYADALWWGVVTVT	311
KCNQ2	YAHSKELVTAWYIGFLCLILASFLVYLAEK>G<E----------NDHFDTYADALWWGLITLT	276
KCNQ3	CAHSKELITAWYIGFLTLILSSFLVYLVEK>D<VPEVDAQGEEMKEEFETYADALWWGLITLA	315
KCNQ4	YAHSKELITAWYIGFLVLIFASFLVYLAEK>D<A----------NSDFSSYADSLWWGTITLT	282
KCNQ5	YAHSKELITAWYIGFLVLIFSSFLVYLVEK>D<A----------NKEFSTYADALWWGTITLT	310
KCNA1	KASMRELGLLIFFLFIGVILFSSAVYFAEA>E<E---------AESHFSSIPDAFWWAVVSMT	371
KCNA10	KASMRELGLLIFFLFIGVILFSSAVYFAEV>D<E---------PESHFSSIPDGFWWAVVTMT	420
KCNA2	KASMRELGLLIFFLFIGVILFSSAVYFAEA>D<E---------RESQFPSIPDAFWWAVVSMT	373
KCNA3	KASMRELGLLIFFLFIGVILFSSAVYFAEA>D<D---------PTSGFSSIPDAFWWAVVTMT	443
KCNA4	RASMRELGLLIFFLFIGVILFSSAVYFAEA>D<E---------PTTHFQSIPDAFWWAVVTMT	523
KCNA5	QASMRELGLLIFFLFIGVILFSSAVYFAEA>D<N---------QGTHFSSIPDAFWWAVVTMT	479
KCNA6	QASMRELGLLIFFLFIGVILFSSAVYFAEA>D<D---------DDSLFPSIPDAFWWAVVTMT	421
KCNA7	RASMRELGLLIFFLFIGVVLFSSAVYFAEV>D<R---------VDSHFTSIPESFWWAVVTMT	357
KCNB1	RRSYNELGLLILFLAMGIMIFSSLVFFAEK>D<E---------DDTKFKSIPASFWWATITMT	376
KCNB2	RRSYNELGLLILFLAMGIMIFSSLVFFAEK>D<E---------DATKFTSIPASFWWATITMT	380
KCNC1	RASTNEFLLLIIFLALGVLIFATMIYYAER>I<GAQPNDPSASEHTHFKNIPIGFWWAVVTMT	399
KCNC2	RASTNEFLLLIIFLALGVLIFATMIYYAER>V<GAQPNDPSASEHTQFKNIPIGFWWAVVTMT	436
KCNC3	RASTNEFLLLIIFLALGVLIFATMIYYAER>I<GADPDDILGSNHTYFKNIPIGFWWAVVTMT	502
KCNC4	RASTNEFLLLIIFLALGVLIFATMIYYAER>I<GARPSDPRGNDHTDFKNIPIGFWWAVVTMT	435
KCND1	KSCASELGFLLFSLTMAIIIFATVMFYAEK>G<T---------NKTNFTSIPAAFWYTIVTMT	371
KCND2	KSCASELGFLLFSLTMAIIIFATVMFYAEK>G<S---------SASKFTSIPAAFWYTIVTMT	369
KCND3	KSCASELGFLLFSLTMAIIIFATVMFYAEK>G<S---------SASKFTSIPASFWYTIVTMT	366
KCNF1	KRSFKELGLLLMYLAVGIFVFSALGYTMEQ>S<H---------PETLFKSIPQSFWWAIITMT	369
KCNG1	RRCTREFGLLLLFLCVAIALFAPLLYVIEN>E<M-----A---DSPEFTSIPACYWWAVITMT	423
KCNG2	RRCAREFGLLLLFLCVAMALFAPLVHLAER>E<L-----G---ARRDFSSVPASYWWAVISMT	368
KCNG3	KRCYREMVMLLVFICVAMAIFSALSQLLEH>G<L-----DLETSNKDFTSIPAACWWVIISMT	372
KCNG4	RRCTREFGLLLLFLAVAITLFSPLVYVAEK>E<S-----G---RVLEFTSIPASYWWAIISMT	417
KCNS1	KHSYREVGILLLYLAVGVSVFSGVAYTAEK>E<E----------DVGFNTIPACWWWGTVSMT	420
KCNS2	KYSYKEVGLLLLYLSVGISIFSVVAYTIEK>E<E----------NEGLATIPACWWWATVSMT	373
KCNS3	RHSYHEVGLLLLFLSVGISIFSVLIYSVEK>D<D---------HTSSLTSIPICWWWATISMT	369
KCNV1	TQCYEEVGLLLLFLSVGISIFSTVEYFAEQ>S<I---------PDTTFTSVPCAWWWATTSMT	391
KCNV2	RQCYQQVGCLLLFIAMGIFTFSAAVYSVEH>D<V---------PSTNFTTIPHSWWWAAVSIS	456
cons	> <

See full Alignment of Paralogues

Known Variants in KCNQ1

There are currently no reported variants at residue 286 for KCNQ1.