Variant position: 53 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:
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 RSPRSSDGKLEALYVLMVLG FFGFFTLGIMLSYIRSKKLEH
Mouse KSQLRDDSKLEALYILMVLG FFGFFTLGIMLSYIRSKKLEH
Rat RSQLRDDSKLEALYILMVLG FFGFFTLGIMLSYIRSKKLEH
Pig RSQLRDDSKLEALYILMVLG FFGFFTLGIMLSYIRSKKLEH
Rabbit RGPLGDDGQMEALYILMVLG FFGFFTLGIMLSYIRSQKLEH
Cat RSPGGDDSQLEALYILMVLG FFGFFTLGIMLSYIRSKKLEH
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
1 – 129 Potassium voltage-gated channel subfamily E member 1
44 – 66 Helical
69 – 69 K -> H. Lowers current 2-fold and leads to faster deactivation of KCNQ1/KCNE1 channel.
46 – 71
Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice.
Napolitano C.; Priori S.G.; Schwartz P.J.; Bloise R.; Ronchetti E.; Nastoli J.; Bottelli G.; Cerrone M.; Leonardi S.;
Cited for: VARIANTS LQT5 HIS-36 AND SER-53;
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