Paralogue Annotation for KCNQ1 residue 123

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 123
Reference Amino Acid: F - Phenylalanine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNQ1 residue 123

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNA1R167MEpisodic ataxia 1Medium8 23349320, 23349320

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------------VQGRVYNFLERPT-GWKC>F<VYHFAVFLIVLVCLIFSVLSTIEQYA----149
KCNQ2------------LQNFLYNVLERPR-G-WA>F<IYHAYVFLLVFSCLVLSVFSTIKEYE----119
KCNQ3------------IQTLIYDALERPR-G-WA>L<LYHALVFLIVLGCLILAVLTTFKEYE----149
KCNQ4------------LQNWVYNVLERPR-G-WA>F<VYHVFIFLLVFSCLVLSVLSTIQEHQ----125
KCNQ5------------VQNYLYNVLERPR-G-WA>F<IYHAFVFLLVFGCLILSVFSTIPEHT----153
KCNA1-------P-EKEYQRQVWLLFEYPESSGPA>R<VIAIVSVMVILISIVIFCLETLPELKDDK-196
KCNA10-------P-TNDIHRQFWLLFEYPESSSAA>R<AVAVVSVLVVVISITIFCLETLPEFREDR-245
KCNA2-------P-ENEFQRQVWLLFEYPESSGPA>R<IIAIVSVMVILISIVSFCLETLPIFRDEN-192
KCNA3-------P-RRDFQRQVWLLFEYPESSGPA>R<GIAIVSVLVILISIVIFCLETLPEFRDEK-263
KCNA4-------P-ENEFKKQIWLLFEYPESSSPA>R<GIAIVSVLVILISIVIFCLETLPEFRDDR-336
KCNA5-------P-RNEFQRQVWLIFEYPESSGSA>R<AIAIVSVLVILISIITFCLETLPEFRDER-279
KCNA6-------P-SQPFQRQVWLLFEYPESSGPA>R<GIAIVSVLVILISIVIFCLETLPQFRVDG-203
KCNA7-------P-RRAFARQLWLLFEFPESSQAA>R<VLAVVSVLVILVSIVVFCLETLPDFRDDR-172
KCNB1---DNTC--CAEKRKKLWDLLEKPNSSVAA>K<ILAIISIMFIVLSTIALSLNTLPELQSLD-218
KCNB2---DNTC--CPDKRKKLWDLLEKPNSSVAA>K<ILAIVSILFIVLSTIALSLNTLPELQETD-222
KCNC1---RPGGF-WRRWQPRIWALFEDPYSSRYA>R<YVAFASLFFILVSITTFCLETHERFNPIV-219
KCNC2---KSGR--WRRLQPRMWALFEDPYSSRAA>R<FIAFASLFFILVSITTFCLETHEAFNI---256
KCNC3AGGAGGTW-WRRWQPRVWALFEDPYSSRAA>R<YVAFASLFFILISITTFCLETHEGFIHIS-319
KCNC4---GSGG--CRGWQPRMWALFEDPYSSRAA>R<VVAFASLFFILVSITTFCLETHEAFNI---253
KCND1-------PAGSSLRQRLWRAFENPHTSTAA>L<VFYYVTGFFIAVSVIANVVETIPCRGSAR-215
KCND2-------PTMT-ARQRVWRAFENPHTSTMA>L<VFYYVTGFFIAVSVIANVVETVPCGS-SP-213
KCND3-------PSLS-FRQTMWRAFENPHTSTLA>L<VFYYVTGFFIAVSVITNVVETVPCGT-VP-211
KCNF1---AEGR--WRRCQKCVWKFLEKPESSCPA>R<VVAVLSFLLILVSSVVMCMGTIPELQVLD-211
KCNG1---GEGRL-GR-CMRRLRDMVERPHSGLPG>K<VFACLSVLFVTVTAVNLSVSTLPSLREEEE257
KCNG2---PRGRL-QR-GRRRLRDVVDNPHSGLAG>K<LFACVSVSFVAVTAVGLCLSTMPDIRAEEE207
KCNG3---AEAAP-SRRWLERMRRTFEEPTSSLAA>Q<ILASVSVVFVIVSMVVLCASTLPDWRN-AA200
KCNG4---HSSRW-GL-CMNRLREMVENPQSGLPG>K<VFACLSILFVATTAVSLCVSTMPDLRAEED251
KCNS1---GAAR--CGRLRRRLWLTMENPGYSLPS>K<LFSCVSISVVLASIAAMCIHSLPEYQARE-249
KCNS2---DGQP--LGNFRRQLWLALDNPGYSVLS>R<VFSILSILVVMGSIITMCLNSLPDFQIPD-216
KCNS3---DTLR--FGQLRKKIWIRMENPAYCLSA>K<LIAISSLSVVLASIVAMCVHSMSEFQNED-214
KCNV1---SQGP--CPTVRQKLWNILEKPGSSTAA>R<IFGVISIIFVVVSIINMALMSAEL------234
KCNV2---RDMRF-YGPQRRRLWNLMEKPFSSVAA>K<AIGVASSTFVLVSVVALALNTVEEMQQHS-289
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNQ1

There are currently no reported variants at residue 123 for KCNQ1.