Variant position: 307 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 676 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 AVNESGRVEFGSYADALWWG VVTVTTIGYGDKVPQTWVGKT
Mouse AVNESGRIEFGSYADALWWG VVTVTTIGYGDKVPQTWVGKT
Rat AVNESGRIEFGSYADALWWG VVTVTTIGYGDKVPQTWVGKT
Pig AVNESGQVEFGSYADALWWG VVTVTTIGYGDKVPQTWVGKT
Rabbit AVNESGRVEFGSYADALWWG VVTVTTIGYGDKVPQTWVGKT
Xenopus laevis AIDSSGEYQFGSYADALWWG VVTVTTIGYGDKVPQTWIGKT
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 – 676 Potassium voltage-gated channel subfamily KQT member 1
300 – 320 Pore-forming; Name=Segment H5
289 – 289 N-linked (GlcNAc...) asparagine
324 – 324 V -> L. Has a voltage-gated potassium channel activity. Inhibition of voltage-gated potassium channel activity by KCNE4.
326 – 326 K -> R. Has a voltage-gated potassium channel activity. Disrupts KCNE4-mediated voltage-gated potassium channel activity inhibition.
327 – 327 T -> V. Has a voltage-gated potassium channel activity. Disrupts KCNE4-mediated voltage-gated potassium channel activity inhibition.
299 – 310
Mutation in the KCNQ1 gene leading to the short QT-interval syndrome.
Bellocq C.; van Ginneken A.C.G.; Bezzina C.R.; Alders M.; Escande D.; Mannens M.M.A.M.; Baro I.; Wilde A.A.M.;
Cited for: VARIANT SQT2 LEU-307; CHARACTERIZATION OF VARIANT SQT2 LEU-307;
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