Variant position: 254 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 473 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 SLSFRLKRNIGYFILQTYMP SILITILSWVSFWINYDASAA
Mouse SLSFRLKRNIGYFILQTYMP SILITILSWVSFWINYDASAA
Rat SLSFRLKRNIGYFILQTYMP SILITILSWVSFWINYDASAA
Chicken SLSFRLKRNIGYFILQTYMP SILITILSWVSFWINYDASAA
Drosophila SLSFKLQRNIGYFVFQTYLP SILIVMLSWVSFWINHEATSA
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
26 – 473 Gamma-aminobutyric acid receptor subunit beta-3
246 – 267 Helical
251 – 262
Diagnostic targeted resequencing in 349 patients with drug-resistant pediatric epilepsies identifies causative mutations in 30 different genes.
Parrini E.; Marini C.; Mei D.; Galuppi A.; Cellini E.; Pucatti D.; Chiti L.; Rutigliano D.; Bianchini C.; Virdo S.; De Vita D.; Bigoni S.; Barba C.; Mari F.; Montomoli M.; Pisano T.; Rosati A.; Guerrini R.;
Hum. Mutat. 38:216-225(2017)
Cited for: VARIANTS DEE43 PHE-124 AND PHE-254;
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