Paralogue Annotation for KCNQ1 residue 409

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 409
Reference Amino Acid: S - Serine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNQ1 residue 409

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNQ2C429YMyoclonus epilepsyLow1 24620919

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-------------------------TLLSP>S<PKPKKSVVVKKKKFKLDKDNGV--------431
KCNQ2AFRKDPPPE-PSP-SKG--SP-CRGPLCGC>C<PGRSSQKVSLKDRV-FSSPRGV--------450
KCNQ3---------------------------KEQ>L<EAASSQKLGLLDRVRLSNPRGS--------438
KCNQ4EVRRAPVPD-GAP-SRYPPVATCHRPGSTS>F<CPGESSRMGIKDRIRMGSSQRR--------448
KCNQ5-------------------LHTCSPTKKEQ>G<EASSSQKLSFKERVRMASPRGQ--------433
KCNA1I------AHYRQV-NIR------------->-<------------------------------474
KCNA10---------G-------------------->-<------------------------------502
KCNA2D--------FREE-NLK------------->-<------------------------------478
KCNA3Q------TPFKTG-N-S------------->-<------------------------------552
KCNA4L------CAKEEKCQGK------------->-<------------------------------632
KCNA5A------KSNVD------------------>-<------------------------------595
KCNA6R------PSYLPT----------------->-<------------------------------515
KCNA7----------LPP-P--------------->-<------------------------------443
KCNB1Q------DNHLSPNKWKW------------>-<----------TKRTLSETSSSK--------502
KCNB2D------DNHLSPSRWKW------------>-<----------ARKALSETSSNK--------506
KCNC1E------VAKAALANED------------->-<------------------------------518
KCNC2-----------VLSGDD------------->-<------------------------------544
KCNC3D------PAAAALAHED------------->-<------------------------------676
KCNC4D-------ANAVLSDEE------------->-<------------------------------554
KCND1Q------HHHLLHCLEKT------------>-<---------------------T--------489
KCND2Q------HHHLLHCLEKT------------>-<---------------------T--------489
KCND3Q------HHHLLHCLEKT------------>-<---------------------TGLSYLVDD495
KCNF1S------RLKLSHSDTF------------->-<----------------IPLLTE--------482
KCNG1------------------------------>-<------------------------------
KCNG2------------------------------>-<------------------------------
KCNG3------------------------------>-<------------------------------
KCNG4------------------------------>-<------------------------------
KCNS1P------QM--------------------->-<------------------------------525
KCNS2N------DSL-------------------->-<------------------------------476
KCNS3D------ASSIEDNEDI------------->-<----------------CNTTSL--------485
KCNV1G------DDF-------------------->-<----------------W-------------499
KCNV2------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNQ1

There are currently no reported variants at residue 409 for KCNQ1.