Paralogue Annotation for KCNQ1 residue 99

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 99
Reference Amino Acid: P - Proline
Protein Domain: N-terminus


Paralogue Variants mapped to KCNQ1 residue 99

No paralogue variants have been mapped to residue 99 for KCNQ1.



KCNQ1DL---GPRPPVSL------DPRVSIYSTRR>P<VLARTH------------------------105
KCNQ2-----KPRAGG--AGAGK-PPKRNAFYRK->-<------------------------------76
KCNQ3-----GIGL-LAKTPLSRPVKRNNAKYRR->-<------------------------------106
KCNQ4-----GPGSGSGSACGQR-SSAAHKRYRR->-<------------------------------82
KCNQ5-----LLGKPL-SYTSSQ-SCRRNVKYRR->-<------------------------------110
KCNA1EIKFYELGEEAME----K--FREDEGF--->-<------------------------------136
KCNA10EISFYELGSEAMD----Q--FREDEGF--->-<------------------------------185
KCNA2EIRFYELGEEAME----M--FREDEGY--->-<------------------------------132
KCNA3EIRFYQLGEEAME----K--FREDEGF--->-<------------------------------203
KCNA4EVKFYQLGEEALL----K--FREDEGF--->-<------------------------------275
KCNA5EIRFYQLGDEAME----R--FREDEGF--->-<------------------------------219
KCNA6EIRFYQLGDEALA----A--FREDEGC--->-<------------------------------140
KCNA7EVAFYGLGAAALA----R--LREDEGC--->-<------------------------------112
KCNB1ELDYWGIDEIYLE----S--CCQARYHQKK>E<QMNEELKREAE----------T--------154
KCNB2ELDYWGIDEIYLE----S--CCQARYHQKK>E<QMNEELRREAE----------T--------158
KCNC1ELAFWGIDETDVE----P--CCWMTYRQHR>D<AEEALDSFGGAPLDNSADDADADGPGDSG-143
KCNC2ELAFWGIDETDVE----P--CCWMTYRQHR>D<AEEALDIFETPDLI-------GGDPGD---181
KCNC3ELGFWGIDETDVE----A--CCWMTYRQHR>D<AEEALDSFEAPDPAGAANAANAAGAHDGGL224
KCNC4ELTFWGIDETDVE----P--CCWMTYRQHR>D<AEEALDIFESPDG-----GGSGAGPSDEAG178
KCND1ELAFYGLVPELVG----D--CCLEEYRDRK>K<ENAERLAEDEEA------------------153
KCND2ELAFFGLIPEIIG----D--CCYEEYKDRR>R<ENAERLQDDADT------------------154
KCND3ELAFYGILPEIIG----D--CCYEEYKDRK>R<ENAERLMDDNDS------------------153
KCNF1EMDFWKVDLKFLD----D--CCKSHLSEKR>E<ELEEIARRVQL-------------------147
KCNG1ELLYWGIAEDHLD----G--CCKRRYLQKI>E<EFAEMVEREEED-----------D------187
KCNG2ELAYWGIDEARLE----R--CCLRRLRRRE>E<EAAEARAGPTER------------------140
KCNG3EMIYWGLEGAHLE----Y--CCQRRLDDRM>S<DTYTFYSADEPG------------------133
KCNG4ELAYWGIEEAHLE----R--CCLRKLLRKL>E<ELEELAKLHRED------------------182
KCNS1EADYWGLGENALA----A--CCRARYLERR>L<TQ-PHAWDEDSD---------TPSSVDPC-180
KCNS2EIEYWGINEFFID----S--CCSYSYHGRK>V<EPEQEKWDEQSD---------QES-TTSS-147
KCNS3EIEYWGINELFID----S--CCSNRYQERK>E<ENHEKDWDQKSH---------DVS-TDSS-145
KCNV1EIQYWGIDELSID----S--CCRDRYFRRK>E<-LSETLDFKKD----------T--------171
KCNV2ELGYWGVRLKYTP----R--CCRICFEERR>D<ELSERLKIQHE-------------------219
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNQ1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.P99Rc.296C>G Other Cardiac PhenotypeSIFT: deleterious
Polyphen: probably damaging
ReportsOther Cardiac Phenotype Cardiac channelopathy testing in 274 ethnically diverse sudden unexplained deaths. Forensic Sci Int. 2014 237:90-9. doi: 10.1016/j.forsciint.2014.01.014. 24631775