Paralogue Annotation for KCNQ1 residue 224

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 224
Reference Amino Acid: T - Threonine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNQ1 residue 224

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNA2L290REpileptic encephalopathy, early onsetMedium6 26648591

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.



KCNQ1MVVLCVG----------------SKGQVFA>T<SAIRGIRFLQILRMLHVDRQGGTWRLLGSV254
KCNQ2IAVLAAG----------------SQGNVFA>T<SALRSLRFLQILRMIRMDRRGGTWKLLGSV224
KCNQ3VPVVAVG----------------NQGNVLA>-<TSLRSLRFLQILRMLRMDRRGGTWKLLGSA253
KCNQ4VAVIAAG----------------TQGNIFA>T<SALRSMRFLQILRMVRMDRRGGTWKLLGSV230
KCNQ5IAVVSAK----------------TQGNIFA>T<SALRSLRFLQILRMVRMDRRGGTWKLLGSV258
KCNA1FITLGTEIAEQEG-------N-QKGEQATS>L<AILRVIRLVRVFRIFKLSRHSKGLQILGQT318
KCNA10FATLITELVQETEP---------SAQQNMS>L<AILRIIRLVRVFRIFKLSRHSKGLQILGQT367
KCNA2FITLGTELAEKPE-------DAQQGQQAMS>L<AILRVIRLVRVFRIFKLSRHSKGLQILGQT320
KCNA3FITLGTELAERQ----------GNGQQAMS>L<AILRVIRLVRVFRIFKLSRHSKGLQILGQT390
KCNA4FITLGTDLAQQQGG------GNGQQQQAMS>F<AILRIIRLVRVFRIFKLSRHSKGLQILGHT470
KCNA5FITLGTELAEQQ---PGGGGGGQNGQQAMS>L<AILRVIRLVRVFRIFKLSRHSKGLQILGKT426
KCNA6FITLGTELVQQQEQQPASGGGGQNGQQAMS>L<AILRVIRLVRVFRIFKLSRHSKGLQILGKT368
KCNA7FVALGTELARQR----------GVGQQAMS>L<AILRVIRLVRVFRIFKLSRHSKGLQILGQT304
KCNB1YVTIFLTES---N--------KSVLQFQNV>R<RVVQIFRIMRILRILKLARHSTGLQSLGFT323
KCNB2YVTIFLTES---N--------KSVLQFQNV>R<RVVQIFRIMRILRILKLARHSTGLQSLGFT327
KCNC1YLEVGLSG-------------LSSKAAKDV>L<GFLRVVRFVRILRIFKLTRHFVGLRVLGHT337
KCNC2YLEVGLSG-------------LSSKAAKDV>L<GFLRVVRFVRILRIFKLTRHFVGLRVLGHT374
KCNC3YLEVGLSG-------------LSSKAAKDV>L<GFLRVVRFVRILRIFKLTRHFVGLRVLGHT440
KCNC4YLEVGLSG-------------LSSKAARDV>L<GFLRVVRFVRILRIFKLTRHFVGLRVLGHT373
KCND1YIGLLVP------------------KNDDV>S<GAFVTLRVFRVFRIFKFSRHSQGLRILGYT318
KCND2YIGLVMT------------------DNEDV>S<GAFVTLRVFRVFRIFKFSRHSQGLRILGYT316
KCND3YIGLVMT------------------NNEDV>S<GAFVTLRVFRVFRIFKFSRHSQGLRILGYT313
KCNF1YVSLTLTHL-----------GARMMELTNV>Q<QAVQALRIMRIARIFKLARHSSGLQTLTYA316
KCNG1YITLLVDGAAAGRR----KPGAGNSYLDKV>G<LVLRVLRALRILYVMRLARHSLGLQTLGLT369
KCNG2YVSLLLGL-----A----AGPGGTKLLERA>G<LVLRLLRALRVLYVMRLARHSLGLRSLGLT314
KCNG3YISVLMTV-----------FTGENSQLQRA>G<VTLRVLRMMRIFWVIKLARHFIGLQTLGLT315
KCNG4YVSLAVSEEPPEDG----ERPSGSSYLEKV>G<LVLRVLRALRILYVMRLARHSLGLQTLGLT363
KCNS1YLTLLAGVALG-D--------QGGKEFGHL>G<KVVQVFRLMRIFRVLKLARHSTGLRSLGAT368
KCNS2YITLVVNLV---V--------ESTPTLANL>G<RVAQVLRLMRIFRILKLARHSTGLRSLGAT321
KCNS3YATLAVDTK---E--------EESEDIENM>G<KVVQILRLMRIFRILKLARHSVGLRSLGAT316
KCNV1YITLLVESLSG-S--------QTTQELENV>G<RIVQVLRLLRALRMLKLGRHSTGLRSLGMT338
KCNV2YLQLLLECFTGEGH----QRGQTVGSVGKV>G<QVLRVMRLMRIFRILKLARHSTGLRAFGFT403
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNQ1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.T224Mc.671C>T Inherited ArrhythmiaLQTSrs199472706SIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085