Paralogue Annotation for KCNQ1 residue 606

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 606
Reference Amino Acid: L - Leucine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNQ1 residue 606

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNQ2L637REpilepsy, benign neonatalMedium2 14985406

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-SEKSKDRGSNTIGARLNRVEDKVTQLDQR>L<ALITDMLHQLLSLHGGS-------------623
KCNQ2-PAEAELPEDPSMMGRLGKVEKQVLSMEKK>L<DFLVNIYMQRMGIPPTE--TEAYFG--AKE663
KCNQ3RPSTSEI-EDQSMMGKFVKVERQVQDMGKK>L<DFLVDMHMQHMERLQVQ--VTE--------656
KCNQ4-PSDAEVVDEISMMGRVVKVEKQVQSIEHK>L<DLLLGFYSRCLRSGTSA--SLGAVQVPLFD661
KCNQ5-TAEHETTDDLSMLGRVVKVEKQVQSIESK>L<DCLLDIYQQVLRKGSASALALASFQIPPFE650
KCNA1------------------------------>-<------------------------------
KCNA10------------------------------>-<------------------------------
KCNA2------------------------------>-<------------------------------
KCNA3------------------------------>-<------------------------------
KCNA4------------------------------>-<------------------------------
KCNA5------------------------------>-<------------------------------
KCNA6------------------------------>-<------------------------------
KCNA7------------------------------>-<------------------------------
KCNB1------------------------------>-<------------------------------
KCNB2------------------------------>-<------------------------------
KCNC1------------------------------>-<------------------------------
KCNC2------------------------------>-<------------------------------
KCNC3------------------------------>-<------------------------------
KCNC4------------------------------>-<------------------------------
KCND1------------------------------>-<------------------------------
KCND2------------------------------>-<------------------------------
KCND3------------------------------>-<------------------------------
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 606 for KCNQ1.