Paralogue Annotation for KCNQ1 residue 89

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 89
Reference Amino Acid: P - Proline
Protein Domain: N-terminus

Paralogue Variants mapped to KCNQ1 residue 89

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
KCNV2	C198S	Cone dystrophy with supernormal rod ERG	Medium	5	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.

KCNQ1	AAPAAPPVASDL---GPRPPVSL------D>P<RVSIYSTRRPVLARTH--------------	105
KCNQ2	GSILS----------KPRAGG--AGAGK-P>P<KRNAFYRK----------------------	76
KCNQ3	--TPQ----------GIGL-LAKTPLSRPV>K<RNNAKYRR----------------------	106
KCNQ4	PGAPLP---------GPGSGSGSACGQR-S>S<AAHKRYRR----------------------	82
KCNQ5	QGARMS---------LLGKPL-SYTSSQ-S>C<RRNVKYRR----------------------	110
KCNA1	VNVPLDMFSEEIKFYELGEEAME----K-->F<REDEGF------------------------	136
KCNA10	ANVPIDIFADEISFYELGSEAMD----Q-->F<REDEGF------------------------	185
KCNA2	VNVPLDIFSEEIRFYELGEEAME----M-->F<REDEGY------------------------	132
KCNA3	VNVPIDIFSEEIRFYQLGEEAME----K-->F<REDEGF------------------------	203
KCNA4	VNVPFDIFTEEVKFYQLGEEALL----K-->F<REDEGF------------------------	275
KCNA5	VNVSLDVFADEIRFYQLGDEAME----R-->F<REDEGF------------------------	219
KCNA6	VNVPLDIFLEEIRFYQLGDEALA----A-->F<REDEGC------------------------	140
KCNA7	AHVPLDVFLEEVAFYGLGAAALA----R-->L<REDEGC------------------------	112
KCNB1	EEMCALSFSQELDYWGIDEIYLE----S-->C<CQARYHQKKEQMNEELKREAE---------	153
KCNB2	EEMCALSFGQELDYWGIDEIYLE----S-->C<CQARYHQKKEQMNEELRREAE---------	157
KCNC1	ADVCGPLYEEELAFWGIDETDVE----P-->C<CWMTYRQHRDAEEALDSFGGAPLDNSADDA	134
KCNC2	ADVCGPLFEEELAFWGIDETDVE----P-->C<CWMTYRQHRDAEEALDIFETPDLI------	175
KCNC3	ADVCGPLFEEELGFWGIDETDVE----A-->C<CWMTYRQHRDAEEALDSFEAPDPAGAANAA	214
KCNC4	ADVCGPLFEEELTFWGIDETDVE----P-->C<CWMTYRQHRDAEEALDIFESPDG-----GG	168
KCND1	RQECIQAFDEELAFYGLVPELVG----D-->C<CLEEYRDRKKENAERLAEDEEA--------	153
KCND2	RHECISAYDEELAFFGLIPEIIG----D-->C<CYEEYKDRRRENAERLQDDADT--------	154
KCND3	RYECISAYDDELAFYGILPEIIG----D-->C<CYEEYKDRKRENAERLMDDNDS--------	153
KCNF1	KGICPICFKNEMDFWKVDLKFLD----D-->C<CKSHLSEKREELEEIARRVQL---------	147
KCNG1	REMCALSFQEELLYWGIAEDHLD----G-->C<CKRRYLQKIEEFAEMVEREEED--------	186
KCNG2	RGPCALAFRDELAYWGIDEARLE----R-->C<CLRRLRRREEEAAEARAGPTER--------	140
KCNG3	PRMCELSFYNEMIYWGLEGAHLE----Y-->C<CQRRLDDRMSDTYTFYSADEPG--------	133
KCNG4	QEMCALSFQEELAYWGIEEAHLE----R-->C<CLRKLLRKLEELEELAKLHRED--------	182
KCNS1	DELCVFAFGQEADYWGLGENALA----A-->C<CRARYLERRLTQ-PHAWDEDSD--------	172
KCNS2	AELCVFSFSQEIEYWGINEFFID----S-->C<CSYSYHGRKVEPEQEKWDEQSD--------	140
KCNS3	EELCVFSFCQEIEYWGINELFID----S-->C<CSNRYQERKEENHEKDWDQKSH--------	138
KCNV1	EQLCALSFLQEIQYWGIDELSID----S-->C<CRDRYFRRKE-LSETLDFKKD---------	170
KCNV2	DGLCPRRFLEELGYWGVRLKYTP----R-->C<CRICFEERRDELSERLKIQHE---------	219
cons	> <

See full Alignment of Paralogues

Known Variants in KCNQ1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.P89T	c.265C>A	Putative Benign			SIFT: Polyphen: