Variant position: 313 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 RVEFGSYADALWWGVVTVTT IGYGDKVPQTWVGKTIASCFS
Mouse RIEFGSYADALWWGVVTVTT IGYGDKVPQTWVGKTIASCFS
Rat RIEFGSYADALWWGVVTVTT IGYGDKVPQTWVGKTIASCFS
Rabbit RVEFGSYADALWWGVVTVTT IGYGDKVPQTWVGKTIASCFS
Xenopus laevis EYQFGSYADALWWGVVTVTT IGYGDKVPQTWIGKTIASCFS
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
312 – 317 Selectivity filter
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.
328 – 328 I -> L. Has a voltage-gated potassium channel activity. Inhibition of voltage-gated potassium channel activity by KCNE4.
Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome.
Tanaka T.; Nagai R.; Tomoike H.; Takata S.; Yano K.; Yabuta K.; Haneda N.; Nakano O.; Shibata A.; Sawayama T.; Kasai H.; Yazaki Y.; Nakamura Y.;
Cited for: VARIANTS LQT1 THR-178; MET-313; ARG-325 AND PRO-366;
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