Paralogue Annotation for KCNQ1 residue 309

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 309
Reference Amino Acid: T - Threonine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNQ1 residue 309

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNQ2T274MEpileptic encephalopathy, neonatalHigh9 22275249, 24318194
KCNB1T374IEpileptic encephalopathyHigh9 25164438, 25164438

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.



KCNQ1EKDAVN-----ESGRVEFGSYADALWWGVV>T<VTTIGYGDKVPQTWVGKTIASCFSVFAISF339
KCNQ2EKGE----------NDHFDTYADALWWGLI>T<LTTIGYGDKYPQTWNGRLLAATFTLIGVSF304
KCNQ3EKDVPEVDAQGEEMKEEFETYADALWWGLI>T<LATIGYGDKTPKTWEGRLIAATFSLIGVSF343
KCNQ4EKDA----------NSDFSSYADSLWWGTI>T<LTTIGYGDKTPHTWLGRVLAAGFALLGISF310
KCNQ5EKDA----------NKEFSTYADALWWGTI>T<LTTIGYGDKTPLTWLGRLLSAGFALLGISF338
KCNA1EAEE---------AESHFSSIPDAFWWAVV>S<MTTVGYGDMYPVTIGGKIVGSLCAIAGVLT399
KCNA10EVDE---------PESHFSSIPDGFWWAVV>T<MTTVGYGDMCPTTPGGKIVGTLCAIAGVLT448
KCNA2EADE---------RESQFPSIPDAFWWAVV>S<MTTVGYGDMVPTTIGGKIVGSLCAIAGVLT401
KCNA3EADD---------PTSGFSSIPDAFWWAVV>T<MTTVGYGDMHPVTIGGKIVGSLCAIAGVLT471
KCNA4EADE---------PTTHFQSIPDAFWWAVV>T<MTTVGYGDMKPITVGGKIVGSLCAIAGVLT551
KCNA5EADN---------QGTHFSSIPDAFWWAVV>T<MTTVGYGDMRPITVGGKIVGSLCAIAGVLT507
KCNA6EADD---------DDSLFPSIPDAFWWAVV>T<MTTVGYGDMYPMTVGGKIVGSLCAIAGVLT449
KCNA7EVDR---------VDSHFTSIPESFWWAVV>T<MTTVGYGDMAPVTVGGKIVGSLCAIAGVLT385
KCNB1EKDE---------DDTKFKSIPASFWWATI>T<MTTVGYGDIYPKTLLGKIVGGLCCIAGVLV404
KCNB2EKDE---------DATKFTSIPASFWWATI>T<MTTVGYGDIYPKTLLGKIVGGLCCIAGVLV408
KCNC1ERIGAQPNDPSASEHTHFKNIPIGFWWAVV>T<MTTLGYGDMYPQTWSGMLVGALCALAGVLT427
KCNC2ERVGAQPNDPSASEHTQFKNIPIGFWWAVV>T<MTTLGYGDMYPQTWSGMLVGALCALAGVLT464
KCNC3ERIGADPDDILGSNHTYFKNIPIGFWWAVV>T<MTTLGYGDMYPKTWSGMLVGALCALAGVLT530
KCNC4ERIGARPSDPRGNDHTDFKNIPIGFWWAVV>T<MTTLGYGDMYPKTWSGMLVGALCALAGVLT463
KCND1EKGT---------NKTNFTSIPAAFWYTIV>T<MTTLGYGDMVPSTIAGKIFGSICSLSGVLV399
KCND2EKGS---------SASKFTSIPAAFWYTIV>T<MTTLGYGDMVPKTIAGKIFGSICSLSGVLV397
KCND3EKGS---------SASKFTSIPASFWYTIV>T<MTTLGYGDMVPKTIAGKIFGSICSLSGVLV394
KCNF1EQSH---------PETLFKSIPQSFWWAII>T<MTTVGYGDIYPKTTLGKLNAAISFLCGVIA397
KCNG1ENEM-----A---DSPEFTSIPACYWWAVI>T<MTTVGYGDMVPRSTPGQVVALSSILSGILL451
KCNG2EREL-----G---ARRDFSSVPASYWWAVI>S<MTTVGYGDMVPRSLPGQVVALSSILSGILL396
KCNG3EHGL-----DLETSNKDFTSIPAACWWVII>S<MTTVGYGDMYPITVPGRILGGVCVVSGIVL400
KCNG4EKES-----G---RVLEFTSIPASYWWAII>S<MTTVGYGDMVPRSVPGQMVALSSILSGILI445
KCNS1EKEE----------DVGFNTIPACWWWGTV>S<MTTVGYGDVVPVTVAGKLAASGCILGGILV448
KCNS2EKEE----------NEGLATIPACWWWATV>S<MTTVGYGDVVPGTTAGKLTASACILAGILV401
KCNS3EKDD---------HTSSLTSIPICWWWATI>S<MTTVGYGDTHPVTLAGKLIASTCIICGILV397
KCNV1EQSI---------PDTTFTSVPCAWWWATT>S<MTTVGYGDIRPDTTTGKIVAFMCILSGILV419
KCNV2EHDV---------PSTNFTTIPHSWWWAAV>S<ISTVGYGDMYPETHLGRFFAFLCIAFGIIL484
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNQ1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.T309Ic.926C>T Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Linkage and mutation analysis in two Taiwanese families with long QT syndrome. J Formos Med Assoc. 2001 100(11):767-71. 11802537
p.T309Rc.926C>G Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome. Circulation. 1997 96(9):2778-81. 9386136
p.T309Sc.925A>T Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Automated mutation screening using dideoxy fingerprinting and capillary array electrophoresis. Hum Mutat. 2001 18(5):451-7. 11668638