Paralogue Annotation for KCNQ1 residue 301

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 301
Reference Amino Acid: D - Aspartate
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNQ1 residue 301

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNQ3D305GEpilepsy, benign neonatalHigh9 14534157
KCNA5D469EAtrial fibrillationHigh9 23264583

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.



KCNQ1SSYFVYLAEKDAVN-----ESGRVEFGSYA>D<ALWWGVVTVTTIGYGDKVPQTWVGKTIASC331
KCNQ2ASFLVYLAEKGE----------NDHFDTYA>D<ALWWGLITLTTIGYGDKYPQTWNGRLLAAT296
KCNQ3SSFLVYLVEKDVPEVDAQGEEMKEEFETYA>D<ALWWGLITLATIGYGDKTPKTWEGRLIAAT335
KCNQ4ASFLVYLAEKDA----------NSDFSSYA>D<SLWWGTITLTTIGYGDKTPHTWLGRVLAAG302
KCNQ5SSFLVYLVEKDA----------NKEFSTYA>D<ALWWGTITLTTIGYGDKTPLTWLGRLLSAG330
KCNA1FSSAVYFAEAEE---------AESHFSSIP>D<AFWWAVVSMTTVGYGDMYPVTIGGKIVGSL391
KCNA10FSSAVYFAEVDE---------PESHFSSIP>D<GFWWAVVTMTTVGYGDMCPTTPGGKIVGTL440
KCNA2FSSAVYFAEADE---------RESQFPSIP>D<AFWWAVVSMTTVGYGDMVPTTIGGKIVGSL393
KCNA3FSSAVYFAEADD---------PTSGFSSIP>D<AFWWAVVTMTTVGYGDMHPVTIGGKIVGSL463
KCNA4FSSAVYFAEADE---------PTTHFQSIP>D<AFWWAVVTMTTVGYGDMKPITVGGKIVGSL543
KCNA5FSSAVYFAEADN---------QGTHFSSIP>D<AFWWAVVTMTTVGYGDMRPITVGGKIVGSL499
KCNA6FSSAVYFAEADD---------DDSLFPSIP>D<AFWWAVVTMTTVGYGDMYPMTVGGKIVGSL441
KCNA7FSSAVYFAEVDR---------VDSHFTSIP>E<SFWWAVVTMTTVGYGDMAPVTVGGKIVGSL377
KCNB1FSSLVFFAEKDE---------DDTKFKSIP>A<SFWWATITMTTVGYGDIYPKTLLGKIVGGL396
KCNB2FSSLVFFAEKDE---------DATKFTSIP>A<SFWWATITMTTVGYGDIYPKTLLGKIVGGL400
KCNC1FATMIYYAERIGAQPNDPSASEHTHFKNIP>I<GFWWAVVTMTTLGYGDMYPQTWSGMLVGAL419
KCNC2FATMIYYAERVGAQPNDPSASEHTQFKNIP>I<GFWWAVVTMTTLGYGDMYPQTWSGMLVGAL456
KCNC3FATMIYYAERIGADPDDILGSNHTYFKNIP>I<GFWWAVVTMTTLGYGDMYPKTWSGMLVGAL522
KCNC4FATMIYYAERIGARPSDPRGNDHTDFKNIP>I<GFWWAVVTMTTLGYGDMYPKTWSGMLVGAL455
KCND1FATVMFYAEKGT---------NKTNFTSIP>A<AFWYTIVTMTTLGYGDMVPSTIAGKIFGSI391
KCND2FATVMFYAEKGS---------SASKFTSIP>A<AFWYTIVTMTTLGYGDMVPKTIAGKIFGSI389
KCND3FATVMFYAEKGS---------SASKFTSIP>A<SFWYTIVTMTTLGYGDMVPKTIAGKIFGSI386
KCNF1FSALGYTMEQSH---------PETLFKSIP>Q<SFWWAIITMTTVGYGDIYPKTTLGKLNAAI389
KCNG1FAPLLYVIENEM-----A---DSPEFTSIP>A<CYWWAVITMTTVGYGDMVPRSTPGQVVALS443
KCNG2FAPLVHLAEREL-----G---ARRDFSSVP>A<SYWWAVISMTTVGYGDMVPRSLPGQVVALS388
KCNG3FSALSQLLEHGL-----DLETSNKDFTSIP>A<ACWWVIISMTTVGYGDMYPITVPGRILGGV392
KCNG4FSPLVYVAEKES-----G---RVLEFTSIP>A<SYWWAIISMTTVGYGDMVPRSVPGQMVALS437
KCNS1FSGVAYTAEKEE----------DVGFNTIP>A<CWWWGTVSMTTVGYGDVVPVTVAGKLAASG440
KCNS2FSVVAYTIEKEE----------NEGLATIP>A<CWWWATVSMTTVGYGDVVPGTTAGKLTASA393
KCNS3FSVLIYSVEKDD---------HTSSLTSIP>I<CWWWATISMTTVGYGDTHPVTLAGKLIAST389
KCNV1FSTVEYFAEQSI---------PDTTFTSVP>C<AWWWATTSMTTVGYGDIRPDTTTGKIVAFM411
KCNV2FSAAVYSVEHDV---------PSTNFTTIP>H<SWWWAAVSISTVGYGDMYPETHLGRFFAFL476
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNQ1

There are currently no reported variants at residue 301 for KCNQ1.