Paralogue Annotation for KCNQ1 residue 255

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 255
Reference Amino Acid: V - Valine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNQ1 residue 255

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNV2L404PCone dystrophy with supernormal rod ERGMedium9 21882291

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.



KCNQ1SAIRGIRFLQILRMLHVDRQGGTWRLLGSV>V<FIHRQELITTLYIGFLGLIFSSYFVYLAEK285
KCNQ2SALRSLRFLQILRMIRMDRRGGTWKLLGSV>V<YAHSKELVTAWYIGFLCLILASFLVYLAEK255
KCNQ3TSLRSLRFLQILRMLRMDRRGGTWKLLGSA>I<CAHSKELITAWYIGFLTLILSSFLVYLVEK284
KCNQ4SALRSMRFLQILRMVRMDRRGGTWKLLGSV>V<YAHSKELITAWYIGFLVLIFASFLVYLAEK261
KCNQ5SALRSLRFLQILRMVRMDRRGGTWKLLGSV>V<YAHSKELITAWYIGFLVLIFSSFLVYLVEK289
KCNA1AILRVIRLVRVFRIFKLSRHSKGLQILGQT>L<KASMRELGLLIFFLFIGVILFSSAVYFAEA349
KCNA10AILRIIRLVRVFRIFKLSRHSKGLQILGQT>L<KASMRELGLLIFFLFIGVILFSSAVYFAEV398
KCNA2AILRVIRLVRVFRIFKLSRHSKGLQILGQT>L<KASMRELGLLIFFLFIGVILFSSAVYFAEA351
KCNA3AILRVIRLVRVFRIFKLSRHSKGLQILGQT>L<KASMRELGLLIFFLFIGVILFSSAVYFAEA421
KCNA4AILRIIRLVRVFRIFKLSRHSKGLQILGHT>L<RASMRELGLLIFFLFIGVILFSSAVYFAEA501
KCNA5AILRVIRLVRVFRIFKLSRHSKGLQILGKT>L<QASMRELGLLIFFLFIGVILFSSAVYFAEA457
KCNA6AILRVIRLVRVFRIFKLSRHSKGLQILGKT>L<QASMRELGLLIFFLFIGVILFSSAVYFAEA399
KCNA7AILRVIRLVRVFRIFKLSRHSKGLQILGQT>L<RASMRELGLLIFFLFIGVVLFSSAVYFAEV335
KCNB1RVVQIFRIMRILRILKLARHSTGLQSLGFT>L<RRSYNELGLLILFLAMGIMIFSSLVFFAEK354
KCNB2RVVQIFRIMRILRILKLARHSTGLQSLGFT>L<RRSYNELGLLILFLAMGIMIFSSLVFFAEK358
KCNC1GFLRVVRFVRILRIFKLTRHFVGLRVLGHT>L<RASTNEFLLLIIFLALGVLIFATMIYYAER368
KCNC2GFLRVVRFVRILRIFKLTRHFVGLRVLGHT>L<RASTNEFLLLIIFLALGVLIFATMIYYAER405
KCNC3GFLRVVRFVRILRIFKLTRHFVGLRVLGHT>L<RASTNEFLLLIIFLALGVLIFATMIYYAER471
KCNC4GFLRVVRFVRILRIFKLTRHFVGLRVLGHT>L<RASTNEFLLLIIFLALGVLIFATMIYYAER404
KCND1GAFVTLRVFRVFRIFKFSRHSQGLRILGYT>L<KSCASELGFLLFSLTMAIIIFATVMFYAEK349
KCND2GAFVTLRVFRVFRIFKFSRHSQGLRILGYT>L<KSCASELGFLLFSLTMAIIIFATVMFYAEK347
KCND3GAFVTLRVFRVFRIFKFSRHSQGLRILGYT>L<KSCASELGFLLFSLTMAIIIFATVMFYAEK344
KCNF1QAVQALRIMRIARIFKLARHSSGLQTLTYA>L<KRSFKELGLLLMYLAVGIFVFSALGYTMEQ347
KCNG1LVLRVLRALRILYVMRLARHSLGLQTLGLT>A<RRCTREFGLLLLFLCVAIALFAPLLYVIEN400
KCNG2LVLRLLRALRVLYVMRLARHSLGLRSLGLT>M<RRCAREFGLLLLFLCVAMALFAPLVHLAER345
KCNG3VTLRVLRMMRIFWVIKLARHFIGLQTLGLT>L<KRCYREMVMLLVFICVAMAIFSALSQLLEH346
KCNG4LVLRVLRALRILYVMRLARHSLGLQTLGLT>V<RRCTREFGLLLLFLAVAITLFSPLVYVAEK394
KCNS1KVVQVFRLMRIFRVLKLARHSTGLRSLGAT>L<KHSYREVGILLLYLAVGVSVFSGVAYTAEK399
KCNS2RVAQVLRLMRIFRILKLARHSTGLRSLGAT>L<KYSYKEVGLLLLYLSVGISIFSVVAYTIEK352
KCNS3KVVQILRLMRIFRILKLARHSVGLRSLGAT>L<RHSYHEVGLLLLFLSVGISIFSVLIYSVEK347
KCNV1RIVQVLRLLRALRMLKLGRHSTGLRSLGMT>I<TQCYEEVGLLLLFLSVGISIFSTVEYFAEQ369
KCNV2QVLRVMRLMRIFRILKLARHSTGLRAFGFT>L<RQCYQQVGCLLLFIAMGIFTFSAAVYSVEH434
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNQ1

There are currently no reported variants at residue 255 for KCNQ1.