Paralogue Annotation for KCNQ1 residue 294

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 294
Reference Amino Acid: V - Valine
Protein Domain: Transmembrane/Linker/Pore

Paralogue Variants mapped to KCNQ1 residue 294

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
KCNV2	T439I	Cone dystrophy with supernormal rod ERG ?	Medium	9	21558291

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	GFLGLIFSSYFVYLAEKDAVN-----ESGR>V<EFGSYADALWWGVVTVTTIGYGDKVPQTWV	324
KCNQ2	GFLCLILASFLVYLAEKGE----------N>D<HFDTYADALWWGLITLTTIGYGDKYPQTWN	289
KCNQ3	GFLTLILSSFLVYLVEKDVPEVDAQGEEMK>E<EFETYADALWWGLITLATIGYGDKTPKTWE	328
KCNQ4	GFLVLIFASFLVYLAEKDA----------N>S<DFSSYADSLWWGTITLTTIGYGDKTPHTWL	295
KCNQ5	GFLVLIFSSFLVYLVEKDA----------N>K<EFSTYADALWWGTITLTTIGYGDKTPLTWL	323
KCNA1	LFIGVILFSSAVYFAEAEE---------AE>S<HFSSIPDAFWWAVVSMTTVGYGDMYPVTIG	384
KCNA10	LFIGVILFSSAVYFAEVDE---------PE>S<HFSSIPDGFWWAVVTMTTVGYGDMCPTTPG	433
KCNA2	LFIGVILFSSAVYFAEADE---------RE>S<QFPSIPDAFWWAVVSMTTVGYGDMVPTTIG	386
KCNA3	LFIGVILFSSAVYFAEADD---------PT>S<GFSSIPDAFWWAVVTMTTVGYGDMHPVTIG	456
KCNA4	LFIGVILFSSAVYFAEADE---------PT>T<HFQSIPDAFWWAVVTMTTVGYGDMKPITVG	536
KCNA5	LFIGVILFSSAVYFAEADN---------QG>T<HFSSIPDAFWWAVVTMTTVGYGDMRPITVG	492
KCNA6	LFIGVILFSSAVYFAEADD---------DD>S<LFPSIPDAFWWAVVTMTTVGYGDMYPMTVG	434
KCNA7	LFIGVVLFSSAVYFAEVDR---------VD>S<HFTSIPESFWWAVVTMTTVGYGDMAPVTVG	370
KCNB1	LAMGIMIFSSLVFFAEKDE---------DD>T<KFKSIPASFWWATITMTTVGYGDIYPKTLL	389
KCNB2	LAMGIMIFSSLVFFAEKDE---------DA>T<KFTSIPASFWWATITMTTVGYGDIYPKTLL	393
KCNC1	LALGVLIFATMIYYAERIGAQPNDPSASEH>T<HFKNIPIGFWWAVVTMTTLGYGDMYPQTWS	412
KCNC2	LALGVLIFATMIYYAERVGAQPNDPSASEH>T<QFKNIPIGFWWAVVTMTTLGYGDMYPQTWS	449
KCNC3	LALGVLIFATMIYYAERIGADPDDILGSNH>T<YFKNIPIGFWWAVVTMTTLGYGDMYPKTWS	515
KCNC4	LALGVLIFATMIYYAERIGARPSDPRGNDH>T<DFKNIPIGFWWAVVTMTTLGYGDMYPKTWS	448
KCND1	LTMAIIIFATVMFYAEKGT---------NK>T<NFTSIPAAFWYTIVTMTTLGYGDMVPSTIA	384
KCND2	LTMAIIIFATVMFYAEKGS---------SA>S<KFTSIPAAFWYTIVTMTTLGYGDMVPKTIA	382
KCND3	LTMAIIIFATVMFYAEKGS---------SA>S<KFTSIPASFWYTIVTMTTLGYGDMVPKTIA	379
KCNF1	LAVGIFVFSALGYTMEQSH---------PE>T<LFKSIPQSFWWAIITMTTVGYGDIYPKTTL	382
KCNG1	LCVAIALFAPLLYVIENEM-----A---DS>P<EFTSIPACYWWAVITMTTVGYGDMVPRSTP	436
KCNG2	LCVAMALFAPLVHLAEREL-----G---AR>R<DFSSVPASYWWAVISMTTVGYGDMVPRSLP	381
KCNG3	ICVAMAIFSALSQLLEHGL-----DLETSN>K<DFTSIPAACWWVIISMTTVGYGDMYPITVP	385
KCNG4	LAVAITLFSPLVYVAEKES-----G---RV>L<EFTSIPASYWWAIISMTTVGYGDMVPRSVP	430
KCNS1	LAVGVSVFSGVAYTAEKEE----------D>V<GFNTIPACWWWGTVSMTTVGYGDVVPVTVA	433
KCNS2	LSVGISIFSVVAYTIEKEE----------N>E<GLATIPACWWWATVSMTTVGYGDVVPGTTA	386
KCNS3	LSVGISIFSVLIYSVEKDD---------HT>S<SLTSIPICWWWATISMTTVGYGDTHPVTLA	382
KCNV1	LSVGISIFSTVEYFAEQSI---------PD>T<TFTSVPCAWWWATTSMTTVGYGDIRPDTTT	404
KCNV2	IAMGIFTFSAAVYSVEHDV---------PS>T<NFTTIPHSWWWAAVSISTVGYGDMYPETHL	469
cons	> <

See full Alignment of Paralogues

Known Variants in KCNQ1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V294M	c.880G>A	Putative Benign			SIFT: Polyphen: