Paralogue Annotation for KCNQ1 residue 317

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 317
Reference Amino Acid: D - Aspartate
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNQ1 residue 317

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNS2D379EEssential tremor, early-onsetHigh9 26508575

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---ESGRVEFGSYADALWWGVVTVTTIGYG>D<KVPQTWVGKTIASCFSVFAISFFALPAGIL347
KCNQ2------NDHFDTYADALWWGLITLTTIGYG>D<KYPQTWNGRLLAATFTLIGVSFFALPAGIL312
KCNQ3AQGEEMKEEFETYADALWWGLITLATIGYG>D<KTPKTWEGRLIAATFSLIGVSFFALPAGIL351
KCNQ4------NSDFSSYADSLWWGTITLTTIGYG>D<KTPHTWLGRVLAAGFALLGISFFALPAGIL318
KCNQ5------NKEFSTYADALWWGTITLTTIGYG>D<KTPLTWLGRLLSAGFALLGISFFALPAGIL346
KCNA1-----AESHFSSIPDAFWWAVVSMTTVGYG>D<MYPVTIGGKIVGSLCAIAGVLTIALPVPVI407
KCNA10-----PESHFSSIPDGFWWAVVTMTTVGYG>D<MCPTTPGGKIVGTLCAIAGVLTIALPVPVI456
KCNA2-----RESQFPSIPDAFWWAVVSMTTVGYG>D<MVPTTIGGKIVGSLCAIAGVLTIALPVPVI409
KCNA3-----PTSGFSSIPDAFWWAVVTMTTVGYG>D<MHPVTIGGKIVGSLCAIAGVLTIALPVPVI479
KCNA4-----PTTHFQSIPDAFWWAVVTMTTVGYG>D<MKPITVGGKIVGSLCAIAGVLTIALPVPVI559
KCNA5-----QGTHFSSIPDAFWWAVVTMTTVGYG>D<MRPITVGGKIVGSLCAIAGVLTIALPVPVI515
KCNA6-----DDSLFPSIPDAFWWAVVTMTTVGYG>D<MYPMTVGGKIVGSLCAIAGVLTIALPVPVI457
KCNA7-----VDSHFTSIPESFWWAVVTMTTVGYG>D<MAPVTVGGKIVGSLCAIAGVLTISLPVPVI393
KCNB1-----DDTKFKSIPASFWWATITMTTVGYG>D<IYPKTLLGKIVGGLCCIAGVLVIALPIPII412
KCNB2-----DATKFTSIPASFWWATITMTTVGYG>D<IYPKTLLGKIVGGLCCIAGVLVIALPIPII416
KCNC1DPSASEHTHFKNIPIGFWWAVVTMTTLGYG>D<MYPQTWSGMLVGALCALAGVLTIAMPVPVI435
KCNC2DPSASEHTQFKNIPIGFWWAVVTMTTLGYG>D<MYPQTWSGMLVGALCALAGVLTIAMPVPVI472
KCNC3DILGSNHTYFKNIPIGFWWAVVTMTTLGYG>D<MYPKTWSGMLVGALCALAGVLTIAMPVPVI538
KCNC4DPRGNDHTDFKNIPIGFWWAVVTMTTLGYG>D<MYPKTWSGMLVGALCALAGVLTIAMPVPVI471
KCND1-----NKTNFTSIPAAFWYTIVTMTTLGYG>D<MVPSTIAGKIFGSICSLSGVLVIALPVPVI407
KCND2-----SASKFTSIPAAFWYTIVTMTTLGYG>D<MVPKTIAGKIFGSICSLSGVLVIALPVPVI405
KCND3-----SASKFTSIPASFWYTIVTMTTLGYG>D<MVPKTIAGKIFGSICSLSGVLVIALPVPVI402
KCNF1-----PETLFKSIPQSFWWAIITMTTVGYG>D<IYPKTTLGKLNAAISFLCGVIAIALPIHPI405
KCNG1-A---DSPEFTSIPACYWWAVITMTTVGYG>D<MVPRSTPGQVVALSSILSGILLMAFPVTSI459
KCNG2-G---ARRDFSSVPASYWWAVISMTTVGYG>D<MVPRSLPGQVVALSSILSGILLMAFPVTSI404
KCNG3-DLETSNKDFTSIPAACWWVIISMTTVGYG>D<MYPITVPGRILGGVCVVSGIVLLALPITFI408
KCNG4-G---RVLEFTSIPASYWWAIISMTTVGYG>D<MVPRSVPGQMVALSSILSGILIMAFPATSI453
KCNS1------DVGFNTIPACWWWGTVSMTTVGYG>D<VVPVTVAGKLAASGCILGGILVVALPITII456
KCNS2------NEGLATIPACWWWATVSMTTVGYG>D<VVPGTTAGKLTASACILAGILVVVLPITLI409
KCNS3-----HTSSLTSIPICWWWATISMTTVGYG>D<THPVTLAGKLIASTCIICGILVVALPITII405
KCNV1-----PDTTFTSVPCAWWWATTSMTTVGYG>D<IRPDTTTGKIVAFMCILSGILVLALPIAII427
KCNV2-----PSTNFTTIPHSWWWAAVSISTVGYG>D<MYPETHLGRFFAFLCIAFGIILNGMPISIL492
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNQ1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.D317Gc.950A>G Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome. J Cardiovasc Electrophysiol. 2003 14(11):1149-53. 14678125
Inherited 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
p.D317Nc.949G>A Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Pathophysiological mechanisms of dominant and recessive KVLQT1 K+ channel mutations found in inherited cardiac arrhythmias. Hum Mol Genet. 1997 6(11):1943-9. 9302275
Inherited ArrhythmiaLQTS Molecular genetics of the long QT syndrome: two novel mutations of the KVLQT1 gene and phenotypic expression of the mutant gene in a large kindred. Hum Mutat. 1998 11(2):158-65. 9482580
Inherited ArrhythmiaLQTS KCNQ1 mutations in patients with a family history of lethal cardiac arrhythmias and sudden death. Clin Genet. 2003 63(4):273-82. 12702160
p.D317Yc.949G>T Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Long QT syndrome with compound mutations is associated with a more severe phenotype: a Japanese multicenter study. Heart Rhythm. 2010 7(10):1411-8. 20541041