Sequence information
Variant position: 52 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 129 The length of the canonical sequence.
Location on the sequence:
RRSPRSSDGKLEALYVLMVL
G FFGFFTLGIMLSYIRSKKLE
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human RRSPRSSDGKLEALYVLMVLG FFGFFTLGIMLSYIRSKKLE
Mouse RKSQLRDDSKLEALYILMVLG FFGFFTLGIMLSYIRSKKLE
Rat RRSQLRDDSKLEALYILMVLG FFGFFTLGIMLSYIRSKKLE
Pig RRSQLRDDSKLEALYILMVLG FFGFFTLGIMLSYIRSKKLE
Rabbit RRGPLGDDGQMEALYILMVLG FFGFFTLGIMLSYIRSQKLE
Cat RRSPGGDDSQLEALYILMVLG FFGFFTLGIMLSYIRSKKLE
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
Chain
1 – 129
Potassium voltage-gated channel subfamily E member 1
Transmembrane
44 – 66
Helical
Mutagenesis
32 – 32
R -> D. Increase in inhibition of the complex KCNQ1-KCNE1 by the scolopendra toxin SSD609.
Mutagenesis
69 – 69
K -> H. Lowers current 2-fold and leads to faster deactivation of KCNQ1/KCNE1 channel.
Helix
46 – 71
Literature citations
No reference for the current variant in UniProtKB/Swiss-Prot.
Disclaimer:
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.