Paralogue Annotation for KCNQ1 residue 148

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 148
Reference Amino Acid: Y - Tyrosine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNQ1 residue 148

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNV2M285REpilepsy Medium8 21402906

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-GWKCFVYHFAVFLIVLVCLIFSVLSTIEQ>Y<A-----------------------------149
KCNQ2-G-WAFIYHAYVFLLVFSCLVLSVFSTIKE>Y<E-----------------------------119
KCNQ3-G-WALLYHALVFLIVLGCLILAVLTTFKE>Y<E-----------------------------149
KCNQ4-G-WAFVYHVFIFLLVFSCLVLSVLSTIQE>H<Q-----------------------------125
KCNQ5-G-WAFIYHAFVFLLVFGCLILSVFSTIPE>H<T-----------------------------153
KCNA1SSGPARVIAIVSVMVILISIVIFCLETLPE>L<KDDK-DF--------TG-------------200
KCNA10SSSAARAVAVVSVLVVVISITIFCLETLPE>F<REDR-EL--------KV-------------249
KCNA2SSGPARIIAIVSVMVILISIVSFCLETLPI>F<RDEN-ED--------MHGSG---V------200
KCNA3SSGPARGIAIVSVLVILISIVIFCLETLPE>F<RDEK-DY--------PA-ST---SQD----272
KCNA4SSSPARGIAIVSVLVILISIVIFCLETLPE>F<RDDR-DL--------VM-AL---SAG----345
KCNA5SSGSARAIAIVSVLVILISIITFCLETLPE>F<RDER-ELLRHPPAP---------HQPPAPA295
KCNA6SSGPARGIAIVSVLVILISIVIFCLETLPQ>F<RVDG-RGGNNGGVSRVS-PVSRGSQEEEED227
KCNA7SSQAARVLAVVSVLVILVSIVVFCLETLPD>F<RDDR-DGTGL-----AA-AA---AAG----184
KCNB1SSVAAKILAIISIMFIVLSTIALSLNTLPE>L<QSLD-EF--------GQ-------------222
KCNB2SSVAAKILAIVSILFIVLSTIALSLNTLPE>L<QETD-EF--------GQ-------------226
KCNC1SSRYARYVAFASLFFILVSITTFCLETHER>F<NPIV-NK--------TE-I----E------225
KCNC2SSRAARFIAFASLFFILVSITTFCLETHEA>F<NI---VK--------NK-T----E------262
KCNC3SSRAARYVAFASLFFILISITTFCLETHEG>F<IHIS-NK--------TV-T----QA-----326
KCNC4SSRAARVVAFASLFFILVSITTFCLETHEA>F<NI---DR-NV-----TE-I----L------261
KCND1TSTAALVFYYVTGFFIAVSVIANVVETIPC>R<GSAR-RS--------SR-------------219
KCND2TSTMALVFYYVTGFFIAVSVIANVVETVPC>G<S-SP-GH--------IK-------------217
KCND3TSTLALVFYYVTGFFIAVSVITNVVETVPC>G<T-VP-G---------SK-------------214
KCNF1SSCPARVVAVLSFLLILVSSVVMCMGTIPE>L<QVLD-AE--------GN-------------215
KCNG1SGLPGKVFACLSVLFVTVTAVNLSVSTLPS>L<REEEE-Q--------GH-------------260
KCNG2SGLAGKLFACVSVSFVAVTAVGLCLSTMPD>I<RAEEE-R--------GE-------------210
KCNG3SSLAAQILASVSVVFVIVSMVVLCASTLPD>W<RN-AAAD--------NR-------------204
KCNG4SGLPGKVFACLSILFVATTAVSLCVSTMPD>L<RAEED-Q--------GE-------------254
KCNS1YSLPSKLFSCVSISVVLASIAAMCIHSLPE>Y<QARE-AA--------AA-------------253
KCNS2YSVLSRVFSILSILVVMGSIITMCLNSLPD>F<QIPD-SQ--------GN-------------220
KCNS3YCLSAKLIAISSLSVVLASIVAMCVHSMSE>F<QNED-GE-----------------------216
KCNV1SSTAARIFGVISIIFVVVSIINMALMSAEL>-<----------------S-------------235
KCNV2SSVAAKAIGVASSTFVLVSVVALALNTVEE>M<QQHS-GQ--------GE-------------293
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNQ1

There are currently no reported variants at residue 148 for KCNQ1.