Paralogue Annotation for KCNQ1 residue 96

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 96
Reference Amino Acid: T - Threonine
Protein Domain: N-terminus


Paralogue Variants mapped to KCNQ1 residue 96

No paralogue variants have been mapped to residue 96 for KCNQ1.



KCNQ1VASDL---GPRPPVSL------DPRVSIYS>T<RRPVLARTH---------------------105
KCNQ2--------KPRAGG--AGAGK-PPKRNAFY>R<K-----------------------------76
KCNQ3--------GIGL-LAKTPLSRPVKRNNAKY>R<R-----------------------------106
KCNQ4--------GPGSGSGSACGQR-SSAAHKRY>R<R-----------------------------82
KCNQ5--------LLGKPL-SYTSSQ-SCRRNVKY>R<R-----------------------------110
KCNA1FSEEIKFYELGEEAME----K--FREDEGF>-<------------------------------136
KCNA10FADEISFYELGSEAMD----Q--FREDEGF>-<------------------------------185
KCNA2FSEEIRFYELGEEAME----M--FREDEGY>-<------------------------------132
KCNA3FSEEIRFYQLGEEAME----K--FREDEGF>-<------------------------------203
KCNA4FTEEVKFYQLGEEALL----K--FREDEGF>-<------------------------------275
KCNA5FADEIRFYQLGDEAME----R--FREDEGF>-<------------------------------219
KCNA6FLEEIRFYQLGDEALA----A--FREDEGC>-<------------------------------140
KCNA7FLEEVAFYGLGAAALA----R--LREDEGC>-<------------------------------112
KCNB1FSQELDYWGIDEIYLE----S--CCQARYH>Q<KKEQMNEELKREAE----------T-----154
KCNB2FGQELDYWGIDEIYLE----S--CCQARYH>Q<KKEQMNEELRREAE----------T-----158
KCNC1YEEELAFWGIDETDVE----P--CCWMTYR>Q<HRDAEEALDSFGGAPLDNSADDADADGPGD141
KCNC2FEEELAFWGIDETDVE----P--CCWMTYR>Q<HRDAEEALDIFETPDLI-------GGDPGD181
KCNC3FEEELGFWGIDETDVE----A--CCWMTYR>Q<HRDAEEALDSFEAPDPAGAANAANAAGAHD221
KCNC4FEEELTFWGIDETDVE----P--CCWMTYR>Q<HRDAEEALDIFESPDG-----GGSGAGPSD175
KCND1FDEELAFYGLVPELVG----D--CCLEEYR>D<RKKENAERLAEDEEA---------------153
KCND2YDEELAFFGLIPEIIG----D--CCYEEYK>D<RRRENAERLQDDADT---------------154
KCND3YDDELAFYGILPEIIG----D--CCYEEYK>D<RKRENAERLMDDNDS---------------153
KCNF1FKNEMDFWKVDLKFLD----D--CCKSHLS>E<KREELEEIARRVQL----------------147
KCNG1FQEELLYWGIAEDHLD----G--CCKRRYL>Q<KIEEFAEMVEREEED-----------D---187
KCNG2FRDELAYWGIDEARLE----R--CCLRRLR>R<REEEAAEARAGPTER---------------140
KCNG3FYNEMIYWGLEGAHLE----Y--CCQRRLD>D<RMSDTYTFYSADEPG---------------133
KCNG4FQEELAYWGIEEAHLE----R--CCLRKLL>R<KLEELEELAKLHRED---------------182
KCNS1FGQEADYWGLGENALA----A--CCRARYL>E<RRLTQ-PHAWDEDSD---------TPSSVD178
KCNS2FSQEIEYWGINEFFID----S--CCSYSYH>G<RKVEPEQEKWDEQSD---------QES-TT145
KCNS3FCQEIEYWGINELFID----S--CCSNRYQ>E<RKEENHEKDWDQKSH---------DVS-TD143
KCNV1FLQEIQYWGIDELSID----S--CCRDRYF>R<RKE-LSETLDFKKD----------T-----171
KCNV2FLEELGYWGVRLKYTP----R--CCRICFE>E<RRDELSERLKIQHE----------------219
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNQ1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.T96Rc.287C>G Inherited ArrhythmiaLQTSSIFT:
Polyphen:
ReportsInherited ArrhythmiaLQTS Prospective, population-based long QT molecular autopsy study of postmortem negative sudden death in 1 to 40 year olds. Heart Rhythm. 2011 8(3):412-9. 21070882
p.T96Ac.286A>G Putative BenignSIFT: tolerated
Polyphen: benign