Paralogue Annotation for KCNQ1 residue 104

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 104
Reference Amino Acid: T - Threonine
Protein Domain: N-terminus


Paralogue Variants mapped to KCNQ1 residue 104

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNV2R213PCone dystrophy with supernormal rod ERGLow3 17896311

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.



KCNQ1GPRPPVSL------DPRVSIYSTRRPVLAR>T<H-----------------------------105
KCNQ2KPRAGG--AGAGK-PPKRNAFYRK------>-<------------------------------76
KCNQ3GIGL-LAKTPLSRPVKRNNAKYRR------>-<------------------------------106
KCNQ4GPGSGSGSACGQR-SSAAHKRYRR------>-<------------------------------82
KCNQ5LLGKPL-SYTSSQ-SCRRNVKYRR------>-<------------------------------110
KCNA1ELGEEAME----K--FREDEGF-------->-<------------------------------136
KCNA10ELGSEAMD----Q--FREDEGF-------->-<------------------------------185
KCNA2ELGEEAME----M--FREDEGY-------->-<------------------------------132
KCNA3QLGEEAME----K--FREDEGF-------->-<------------------------------203
KCNA4QLGEEALL----K--FREDEGF-------->-<------------------------------275
KCNA5QLGDEAME----R--FREDEGF-------->-<------------------------------219
KCNA6QLGDEALA----A--FREDEGC-------->-<------------------------------140
KCNA7GLGAAALA----R--LREDEGC-------->-<------------------------------112
KCNB1GIDEIYLE----S--CCQARYHQKKEQMNE>E<LKREAE----------T-------------154
KCNB2GIDEIYLE----S--CCQARYHQKKEQMNE>E<LRREAE----------T-------------158
KCNC1GIDETDVE----P--CCWMTYRQHRDAEEA>L<DSFGGAPLDNSADDADADGPGDSG-DG---145
KCNC2GIDETDVE----P--CCWMTYRQHRDAEEA>L<DIFETPDLI-------GGDPGD----D---182
KCNC3GIDETDVE----A--CCWMTYRQHRDAEEA>L<DSFEAPDPAGAANAANAAGAHDGGLDDE-A228
KCNC4GIDETDVE----P--CCWMTYRQHRDAEEA>L<DIFESPDG-----GGSGAGPSDEAGDD---180
KCND1GLVPELVG----D--CCLEEYRDRKKENAE>R<LAEDEEA-----------------------153
KCND2GLIPEIIG----D--CCYEEYKDRRRENAE>R<LQDDADT-----------------------154
KCND3GILPEIIG----D--CCYEEYKDRKRENAE>R<LMDDNDS-----------------------153
KCNF1KVDLKFLD----D--CCKSHLSEKREELEE>I<ARRVQL------------------------147
KCNG1GIAEDHLD----G--CCKRRYLQKIEEFAE>M<VEREEED-----------D------A-LDS191
KCNG2GIDEARLE----R--CCLRRLRRREEEAAE>A<RAGPTER----------------------G141
KCNG3GLEGAHLE----Y--CCQRRLDDRMSDTYT>F<YSADEPG----------------------V134
KCNG4GIEEAHLE----R--CCLRKLLRKLEELEE>L<AKLHRED--------------------VLR185
KCNS1GLGENALA----A--CCRARYLERRLTQ-P>H<AWDEDSD---------TPSSVDPC-PDE-I184
KCNS2GINEFFID----S--CCSYSYHGRKVEPEQ>E<KWDEQSD---------QES-TTSS-FDE-I151
KCNS3GINELFID----S--CCSNRYQERKEENHE>K<DWDQKSH---------DVS-TDSS-FEE-S149
KCNV1GIDELSID----S--CCRDRYFRRKE-LSE>T<LDFKKD----------T----------EDQ174
KCNV2GVRLKYTP----R--CCRICFEERRDELSE>R<LKIQHE--------------------LRAQ223
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNQ1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.T104Ic.311C>T Putative BenignSIFT:
Polyphen: