Paralogue Annotation for KCNQ1 residue 296

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 296
Reference Amino Acid: F - Phenylalanine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNQ1 residue 296

No paralogue variants have been mapped to residue 296 for KCNQ1.



KCNQ1LGLIFSSYFVYLAEKDAVN-----ESGRVE>F<GSYADALWWGVVTVTTIGYGDKVPQTWVGK326
KCNQ2LCLILASFLVYLAEKGE----------NDH>F<DTYADALWWGLITLTTIGYGDKYPQTWNGR291
KCNQ3LTLILSSFLVYLVEKDVPEVDAQGEEMKEE>F<ETYADALWWGLITLATIGYGDKTPKTWEGR330
KCNQ4LVLIFASFLVYLAEKDA----------NSD>F<SSYADSLWWGTITLTTIGYGDKTPHTWLGR297
KCNQ5LVLIFSSFLVYLVEKDA----------NKE>F<STYADALWWGTITLTTIGYGDKTPLTWLGR325
KCNA1IGVILFSSAVYFAEAEE---------AESH>F<SSIPDAFWWAVVSMTTVGYGDMYPVTIGGK386
KCNA10IGVILFSSAVYFAEVDE---------PESH>F<SSIPDGFWWAVVTMTTVGYGDMCPTTPGGK435
KCNA2IGVILFSSAVYFAEADE---------RESQ>F<PSIPDAFWWAVVSMTTVGYGDMVPTTIGGK388
KCNA3IGVILFSSAVYFAEADD---------PTSG>F<SSIPDAFWWAVVTMTTVGYGDMHPVTIGGK458
KCNA4IGVILFSSAVYFAEADE---------PTTH>F<QSIPDAFWWAVVTMTTVGYGDMKPITVGGK538
KCNA5IGVILFSSAVYFAEADN---------QGTH>F<SSIPDAFWWAVVTMTTVGYGDMRPITVGGK494
KCNA6IGVILFSSAVYFAEADD---------DDSL>F<PSIPDAFWWAVVTMTTVGYGDMYPMTVGGK436
KCNA7IGVVLFSSAVYFAEVDR---------VDSH>F<TSIPESFWWAVVTMTTVGYGDMAPVTVGGK372
KCNB1MGIMIFSSLVFFAEKDE---------DDTK>F<KSIPASFWWATITMTTVGYGDIYPKTLLGK391
KCNB2MGIMIFSSLVFFAEKDE---------DATK>F<TSIPASFWWATITMTTVGYGDIYPKTLLGK395
KCNC1LGVLIFATMIYYAERIGAQPNDPSASEHTH>F<KNIPIGFWWAVVTMTTLGYGDMYPQTWSGM414
KCNC2LGVLIFATMIYYAERVGAQPNDPSASEHTQ>F<KNIPIGFWWAVVTMTTLGYGDMYPQTWSGM451
KCNC3LGVLIFATMIYYAERIGADPDDILGSNHTY>F<KNIPIGFWWAVVTMTTLGYGDMYPKTWSGM517
KCNC4LGVLIFATMIYYAERIGARPSDPRGNDHTD>F<KNIPIGFWWAVVTMTTLGYGDMYPKTWSGM450
KCND1MAIIIFATVMFYAEKGT---------NKTN>F<TSIPAAFWYTIVTMTTLGYGDMVPSTIAGK386
KCND2MAIIIFATVMFYAEKGS---------SASK>F<TSIPAAFWYTIVTMTTLGYGDMVPKTIAGK384
KCND3MAIIIFATVMFYAEKGS---------SASK>F<TSIPASFWYTIVTMTTLGYGDMVPKTIAGK381
KCNF1VGIFVFSALGYTMEQSH---------PETL>F<KSIPQSFWWAIITMTTVGYGDIYPKTTLGK384
KCNG1VAIALFAPLLYVIENEM-----A---DSPE>F<TSIPACYWWAVITMTTVGYGDMVPRSTPGQ438
KCNG2VAMALFAPLVHLAEREL-----G---ARRD>F<SSVPASYWWAVISMTTVGYGDMVPRSLPGQ383
KCNG3VAMAIFSALSQLLEHGL-----DLETSNKD>F<TSIPAACWWVIISMTTVGYGDMYPITVPGR387
KCNG4VAITLFSPLVYVAEKES-----G---RVLE>F<TSIPASYWWAIISMTTVGYGDMVPRSVPGQ432
KCNS1VGVSVFSGVAYTAEKEE----------DVG>F<NTIPACWWWGTVSMTTVGYGDVVPVTVAGK435
KCNS2VGISIFSVVAYTIEKEE----------NEG>L<ATIPACWWWATVSMTTVGYGDVVPGTTAGK388
KCNS3VGISIFSVLIYSVEKDD---------HTSS>L<TSIPICWWWATISMTTVGYGDTHPVTLAGK384
KCNV1VGISIFSTVEYFAEQSI---------PDTT>F<TSVPCAWWWATTSMTTVGYGDIRPDTTTGK406
KCNV2MGIFTFSAAVYSVEHDV---------PSTN>F<TTIPHSWWWAAVSISTVGYGDMYPETHLGR471
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNQ1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.F296Sc.887T>C Inherited ArrhythmiaLQTSrs199472738SIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene. Circulation. 2007 115(19):2481-9. 17470695
Inherited ArrhythmiaLQTS Long QT and Brugada syndrome gene mutations in New Zealand. Heart Rhythm. 2007 4(10):1306-14. 17905336