Paralogue Annotation for KCNQ1 residue 521

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 521
Reference Amino Acid: Q - Glutamine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNQ1 residue 521

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNQ2R547WSeizures, benign neonatalLow2 23360469

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.



KCNQ1REHHRATIKV----------------IRRM>Q<----------YFVAKKKFQQARKPYDVRDV541
KCNQ2TPGLKVSIRA----------------VCVM>R<----------FLVSKRKFKESLRPYDVMDV567
KCNQ3IPTLKAAIRA----------------VRIL>Q<----------FRLYKKKFKETLRPYDVKDV546
KCNQ4MPAVKTVIRS----------------IRIL>K<----------FLVAKRKFKETLRPYDVKDV561
KCNQ5TPPLKTVIRA----------------IRIM>K<----------FHVAKRKFKETLRPYDVKDV549
KCNA1TAN--QNCVN----------------KSKL>L<----------TD------------------494
KCNA10---------G----------------CSTE>K<----------SR------------------510
KCNA2LAN--TNYVN----------------ITKM>L<----------TD------------------498
KCNA3TNNNPNSCVN----------------IKKI>F<----------TD------------------574
KCNA4TDK--NNCSN----------------AKAV>E<----------TD------------------652
KCNA5--------------------------LRRS>L<YALCLDTSRETD------------------612
KCNA6-----HRAYA----------------EKRM>L<----------TE------------------528
KCNA7-----LWAPP----------------GKHL>V<----------TE------------------455
KCNB1TNNPLKLRAL----------------KVNF>M<----------EG-------DPSPLLPVLGM690
KCNB2GSNPLKSRSL----------------KVNF>K<----------ENRGSAPQTPPSTARPLPVT740
KCNC1SGTRERY--G----------------P-CF>L<----------LSTGEYACPPGGGMRK----564
KCNC2SSTRDKNRRG----------------ETCF>L<----------LTTGDYTCASDGGIRKG---594
KCNC3PGSRGRYSRD----------------RACF>L<----------LT--DYAPSPDGSIRKATGA727
KCNC4STTRDRNKKA----------------AACF>L<----------LSTGDYACA-DGSVRKG---607
KCND1LSSCCPRRAKRRAIRLANSTASVS-RGSMQ>E<----------LDMLA--GLRRSHAPQSRSS576
KCND2TSTCCSRRHKK-TFRIPNANVSGSHQGSIQ>E<----------LSTIQIRCVERTPLSNSRSS575
KCND3TTTCCSRRSKK-TTHLPNSNLPATRLRSMQ>E<----------LSTIHIQGSEQPSLTTSRSS592
KCNF1------------------------------>-<------------------------------
KCNG1------------------------------>-<------------------------------
KCNG2------------------------------>-<------------------------------
KCNG3------------------------------>-<------------------------------
KCNG4------------------------------>-<------------------------------
KCNS1------------------------------>-<------------------------------
KCNS2------------------------------>-<------------------------------
KCNS3------------------------------>-<------------------------------
KCNV1------------------------------>-<------------------------------
KCNV2------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNQ1

There are currently no reported variants at residue 521 for KCNQ1.