Paralogue Annotation for KCNQ1 residue 78

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 78
Reference Amino Acid: D - Aspartate
Protein Domain: N-terminus


Paralogue Variants mapped to KCNQ1 residue 78

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNV2E184VCone dystrophy with supernormal rod ERGMedium9 18235024
KCNV2E184KCone dystrophy with supernormal rod ERGMedium9 18235024

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.



KCNQ1PGAPGP--------APPASPAAPAAPPVAS>D<L---GPRPPVSL------DPRVSIYSTRRP99
KCNQ2A-PK---------------RGSILS----->-<----KPRAGG--AGAGK-PPKRNAFYRK--76
KCNQ3----DEG-----QR---R----TPQ----->-<----GIGL-LAKTPLSRPVKRNNAKYRR--106
KCNQ4LGLLGSP-----L------PPGAPLP---->-<----GPGSGSGSACGQR-SSAAHKRYRR--82
KCNQ5LGGGGGG-----LRESRRGKQGARMS---->-<----LLGKPL-SYTSSQ-SCRRNVKYRR--110
KCNA1RPSFDAILYYYQSGGRLRRPVNVPLDMFSE>E<IKFYELGEEAME----K--FREDEGF----136
KCNA10RPSFDGILYYYQSGGKIRRPANVPIDIFAD>E<ISFYELGSEAMD----Q--FREDEGF----185
KCNA2RPSFDAILYYYQSGGRLRRPVNVPLDIFSE>E<IRFYELGEEAME----M--FREDEGY----132
KCNA3RPSFDAILYYYQSGGRIRRPVNVPIDIFSE>E<IRFYQLGEEAME----K--FREDEGF----203
KCNA4RPSFDAILYYYQSGGRLKRPVNVPFDIFTE>E<VKFYQLGEEALL----K--FREDEGF----275
KCNA5RPSFDGILYYYQSGGRLRRPVNVSLDVFAD>E<IRFYQLGDEAME----R--FREDEGF----219
KCNA6RPSFDAILYYYQSGGRLRRPVNVPLDIFLE>E<IRFYQLGDEALA----A--FREDEGC----140
KCNA7RPSFDAVLYYYQSGGRLRRPAHVPLDVFLE>E<VAFYGLGAAALA----R--LREDEGC----112
KCNB1PGAFTSILNFYRT-GRLHMMEEMCALSFSQ>E<LDYWGIDEIYLE----S--CCQARYHQKKE142
KCNB2PGAFTSILNFYRT-GKLHMMEEMCALSFGQ>E<LDYWGIDEIYLE----S--CCQARYHQKKE146
KCNC1PGVFAHILNYYRT-GKLHCPADVCGPLYEE>E<LAFWGIDETDVE----P--CCWMTYRQHRD114
KCNC2PGVFAYVLNYYRT-GKLHCPADVCGPLFEE>E<LAFWGIDETDVE----P--CCWMTYRQHRD161
KCNC3PGVFAYVLNYYRT-GKLHCPADVCGPLFEE>E<LGFWGIDETDVE----A--CCWMTYRQHRD194
KCNC4PGVFAYVLNYYRT-GKLHCPADVCGPLFEE>E<LTFWGIDETDVE----P--CCWMTYRQHRD153
KCND1PDMFRHVLNFYRT-GRLHCPRQECIQAFDE>E<LAFYGLVPELVG----D--CCLEEYRDRKK141
KCND2PDIFRHILNFYRT-GKLHYPRHECISAYDE>E<LAFFGLIPEIIG----D--CCYEEYKDRRR142
KCND3PEVFRCVLNFYRT-GKLHYPRYECISAYDD>E<LAFYGILPEIIG----D--CCYEEYKDRKR141
KCNF1PDAFKCVIEVYYF-GEVHMKKGICPICFKN>E<MDFWKVDLKFLD----D--CCKSHLSEKRE136
KCNG1PGAFGTILTFLRA-GKLRLLREMCALSFQE>E<LLYWGIAEDHLD----G--CCKRRYLQKIE174
KCNG2PCAFRAIVALLRA-GKLRLLRGPCALAFRD>E<LAYWGIDEARLE----R--CCLRRLRRREE128
KCNG3SEAFGFILLYVRGHGKLRFAPRMCELSFYN>E<MIYWGLEGAHLE----Y--CCQRRLDDRMS121
KCNG4PSAFGVIVSFLAA-GKLVLLQEMCALSFQE>E<LAYWGIEEAHLE----R--CCLRKLLRKLE170
KCNS1PGFFLSLLHFYRT-GHLHVLDELCVFAFGQ>E<ADYWGLGENALA----A--CCRARYLERRL161
KCNS2PELFPYVLHFYHT-GKLHVMAELCVFSFSQ>E<IEYWGINEFFID----S--CCSYSYHGRKV128
KCNS3PSLFRYVLNFYYT-GKLHVMEELCVFSFCQ>E<IEYWGINELFID----S--CCSNRYQERKE126
KCNV1SQAFRYVLHYYRT-GRLHVMEQLCALSFLQ>E<IQYWGIDELSID----S--CCRDRYFRRKE160
KCNV2PAVFQLVYNFYLS-GVLLVLDGLCPRRFLE>E<LGYWGVRLKYTP----R--CCRICFEERRD208
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNQ1

There are currently no reported variants at residue 78 for KCNQ1.