Paralogue Annotation for KCNQ1 residue 130

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 130
Reference Amino Acid: F - Phenylalanine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNQ1 residue 130

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNA1V174FEpisodic ataxia / myokymiaMedium9 7842011, 8845167, 9526001

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-GWKCFVYHFAV>F<LIVLVCLIFSVLSTIEQYA-----------149
KCNQ2-----LQNFLYNVLERPR-G-WAFIYHAYV>F<LLVFSCLVLSVFSTIKEYE-----------119
KCNQ3-----IQTLIYDALERPR-G-WALLYHALV>F<LIVLGCLILAVLTTFKEYE-----------149
KCNQ4-----LQNWVYNVLERPR-G-WAFVYHVFI>F<LLVFSCLVLSVLSTIQEHQ-----------125
KCNQ5-----VQNYLYNVLERPR-G-WAFIYHAFV>F<LLVFGCLILSVFSTIPEHT-----------153
KCNA1P-EKEYQRQVWLLFEYPESSGPARVIAIVS>V<MVILISIVIFCLETLPELKDDK-DF-----198
KCNA10P-TNDIHRQFWLLFEYPESSSAARAVAVVS>V<LVVVISITIFCLETLPEFREDR-EL-----247
KCNA2P-ENEFQRQVWLLFEYPESSGPARIIAIVS>V<MVILISIVSFCLETLPIFRDEN-ED-----194
KCNA3P-RRDFQRQVWLLFEYPESSGPARGIAIVS>V<LVILISIVIFCLETLPEFRDEK-DY-----265
KCNA4P-ENEFKKQIWLLFEYPESSSPARGIAIVS>V<LVILISIVIFCLETLPEFRDDR-DL-----338
KCNA5P-RNEFQRQVWLIFEYPESSGSARAIAIVS>V<LVILISIITFCLETLPEFRDER-ELLRHPP286
KCNA6P-SQPFQRQVWLLFEYPESSGPARGIAIVS>V<LVILISIVIFCLETLPQFRVDG-RGGNNGG210
KCNA7P-RRAFARQLWLLFEFPESSQAARVLAVVS>V<LVILVSIVVFCLETLPDFRDDR-DGTGL--177
KCNB1--CAEKRKKLWDLLEKPNSSVAAKILAIIS>I<MFIVLSTIALSLNTLPELQSLD-EF-----220
KCNB2--CPDKRKKLWDLLEKPNSSVAAKILAIVS>I<LFIVLSTIALSLNTLPELQETD-EF-----224
KCNC1F-WRRWQPRIWALFEDPYSSRYARYVAFAS>L<FFILVSITTFCLETHERFNPIV-NK-----221
KCNC2--WRRLQPRMWALFEDPYSSRAARFIAFAS>L<FFILVSITTFCLETHEAFNI---VK-----258
KCNC3W-WRRWQPRVWALFEDPYSSRAARYVAFAS>L<FFILISITTFCLETHEGFIHIS-NK-----321
KCNC4--CRGWQPRMWALFEDPYSSRAARVVAFAS>L<FFILVSITTFCLETHEAFNI---DR-NV--257
KCND1PAGSSLRQRLWRAFENPHTSTAALVFYYVT>G<FFIAVSVIANVVETIPCRGSAR-RS-----217
KCND2PTMT-ARQRVWRAFENPHTSTMALVFYYVT>G<FFIAVSVIANVVETVPCGS-SP-GH-----215
KCND3PSLS-FRQTMWRAFENPHTSTLALVFYYVT>G<FFIAVSVITNVVETVPCGT-VP-G------212
KCNF1--WRRCQKCVWKFLEKPESSCPARVVAVLS>F<LLILVSSVVMCMGTIPELQVLD-AE-----213
KCNG1L-GR-CMRRLRDMVERPHSGLPGKVFACLS>V<LFVTVTAVNLSVSTLPSLREEEE-Q-----258
KCNG2L-QR-GRRRLRDVVDNPHSGLAGKLFACVS>V<SFVAVTAVGLCLSTMPDIRAEEE-R-----208
KCNG3P-SRRWLERMRRTFEEPTSSLAAQILASVS>V<VFVIVSMVVLCASTLPDWRN-AAAD-----202
KCNG4W-GL-CMNRLREMVENPQSGLPGKVFACLS>I<LFVATTAVSLCVSTMPDLRAEED-Q-----252
KCNS1--CGRLRRRLWLTMENPGYSLPSKLFSCVS>I<SVVLASIAAMCIHSLPEYQARE-AA-----251
KCNS2--LGNFRRQLWLALDNPGYSVLSRVFSILS>I<LVVMGSIITMCLNSLPDFQIPD-SQ-----218
KCNS3--FGQLRKKIWIRMENPAYCLSAKLIAISS>L<SVVLASIVAMCVHSMSEFQNED-GE-----216
KCNV1--CPTVRQKLWNILEKPGSSTAARIFGVIS>I<IFVVVSIINMALMSAEL-------------234
KCNV2F-YGPQRRRLWNLMEKPFSSVAAKAIGVAS>S<TFVLVSVVALALNTVEEMQQHS-GQ-----291
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNQ1

There are currently no reported variants at residue 130 for KCNQ1.