Paralogue Annotation for KCNQ1 residue 250

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 250
Reference Amino Acid: L - Leucine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNQ1 residue 250

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNA1I314TEpisodic ataxia / myokymiaMedium9 26395884

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.



KCNQ1QVFATSAIRGIRFLQILRMLHVDRQGGTWR>L<LGSVVFIHRQELITTLYIGFLGLIFSSYFV280
KCNQ2NVFATSALRSLRFLQILRMIRMDRRGGTWK>L<LGSVVYAHSKELVTAWYIGFLCLILASFLV250
KCNQ3NVLA-TSLRSLRFLQILRMLRMDRRGGTWK>L<LGSAICAHSKELITAWYIGFLTLILSSFLV279
KCNQ4NIFATSALRSMRFLQILRMVRMDRRGGTWK>L<LGSVVYAHSKELITAWYIGFLVLIFASFLV256
KCNQ5NIFATSALRSLRFLQILRMVRMDRRGGTWK>L<LGSVVYAHSKELITAWYIGFLVLIFSSFLV284
KCNA1QATSLAILRVIRLVRVFRIFKLSRHSKGLQ>I<LGQTLKASMRELGLLIFFLFIGVILFSSAV344
KCNA10QNMSLAILRIIRLVRVFRIFKLSRHSKGLQ>I<LGQTLKASMRELGLLIFFLFIGVILFSSAV393
KCNA2QAMSLAILRVIRLVRVFRIFKLSRHSKGLQ>I<LGQTLKASMRELGLLIFFLFIGVILFSSAV346
KCNA3QAMSLAILRVIRLVRVFRIFKLSRHSKGLQ>I<LGQTLKASMRELGLLIFFLFIGVILFSSAV416
KCNA4QAMSFAILRIIRLVRVFRIFKLSRHSKGLQ>I<LGHTLRASMRELGLLIFFLFIGVILFSSAV496
KCNA5QAMSLAILRVIRLVRVFRIFKLSRHSKGLQ>I<LGKTLQASMRELGLLIFFLFIGVILFSSAV452
KCNA6QAMSLAILRVIRLVRVFRIFKLSRHSKGLQ>I<LGKTLQASMRELGLLIFFLFIGVILFSSAV394
KCNA7QAMSLAILRVIRLVRVFRIFKLSRHSKGLQ>I<LGQTLRASMRELGLLIFFLFIGVVLFSSAV330
KCNB1FQNVRRVVQIFRIMRILRILKLARHSTGLQ>S<LGFTLRRSYNELGLLILFLAMGIMIFSSLV349
KCNB2FQNVRRVVQIFRIMRILRILKLARHSTGLQ>S<LGFTLRRSYNELGLLILFLAMGIMIFSSLV353
KCNC1AKDVLGFLRVVRFVRILRIFKLTRHFVGLR>V<LGHTLRASTNEFLLLIIFLALGVLIFATMI363
KCNC2AKDVLGFLRVVRFVRILRIFKLTRHFVGLR>V<LGHTLRASTNEFLLLIIFLALGVLIFATMI400
KCNC3AKDVLGFLRVVRFVRILRIFKLTRHFVGLR>V<LGHTLRASTNEFLLLIIFLALGVLIFATMI466
KCNC4ARDVLGFLRVVRFVRILRIFKLTRHFVGLR>V<LGHTLRASTNEFLLLIIFLALGVLIFATMI399
KCND1NDDVSGAFVTLRVFRVFRIFKFSRHSQGLR>I<LGYTLKSCASELGFLLFSLTMAIIIFATVM344
KCND2NEDVSGAFVTLRVFRVFRIFKFSRHSQGLR>I<LGYTLKSCASELGFLLFSLTMAIIIFATVM342
KCND3NEDVSGAFVTLRVFRVFRIFKFSRHSQGLR>I<LGYTLKSCASELGFLLFSLTMAIIIFATVM339
KCNF1LTNVQQAVQALRIMRIARIFKLARHSSGLQ>T<LTYALKRSFKELGLLLMYLAVGIFVFSALG342
KCNG1LDKVGLVLRVLRALRILYVMRLARHSLGLQ>T<LGLTARRCTREFGLLLLFLCVAIALFAPLL395
KCNG2LERAGLVLRLLRALRVLYVMRLARHSLGLR>S<LGLTMRRCAREFGLLLLFLCVAMALFAPLV340
KCNG3LQRAGVTLRVLRMMRIFWVIKLARHFIGLQ>T<LGLTLKRCYREMVMLLVFICVAMAIFSALS341
KCNG4LEKVGLVLRVLRALRILYVMRLARHSLGLQ>T<LGLTVRRCTREFGLLLLFLAVAITLFSPLV389
KCNS1FGHLGKVVQVFRLMRIFRVLKLARHSTGLR>S<LGATLKHSYREVGILLLYLAVGVSVFSGVA394
KCNS2LANLGRVAQVLRLMRIFRILKLARHSTGLR>S<LGATLKYSYKEVGLLLLYLSVGISIFSVVA347
KCNS3IENMGKVVQILRLMRIFRILKLARHSVGLR>S<LGATLRHSYHEVGLLLLFLSVGISIFSVLI342
KCNV1LENVGRIVQVLRLLRALRMLKLGRHSTGLR>S<LGMTITQCYEEVGLLLLFLSVGISIFSTVE364
KCNV2VGKVGQVLRVMRLMRIFRILKLARHSTGLR>A<FGFTLRQCYQQVGCLLLFIAMGIFTFSAAV429
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNQ1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L250Hc.749T>A Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Genomic organization and mutational analysis of KVLQT1, a gene responsible for familial long QT syndrome. Hum Genet. 1998 103(3):290-4. 9799083
Inherited ArrhythmiaLQTS Genomic organization and mutational analysis of HERG, a gene responsible for familial long QT syndrome. Hum Genet. 1998 102(4):435-9. 9600240
p.L250Pc.749T>C Inherited ArrhythmiaLQTSSIFT: 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