Variant position: 406 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 594 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 PMRAIVPILLDANVSTYDKI RIILLYIFLKNGITEENLNKL
Mouse PMRAIVPILLDANVSTYDKI RIILLYIFLKNGITEENLNKL
Rat PMRAIVPILLDANVSTYDKI RIILLYIFLKNGITEENLNKL
Bovine PMRAIVPILLDANVSTYDKI RIILLYIFLKNGITEENLNKL
Chicken PMRAIVPILLDGNVSTYDKI RIILLYIFLKNGITEENLNKL
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 – 594 Syntaxin-binding protein 1
STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern.
Saitsu H.; Kato M.; Okada I.; Orii K.E.; Higuchi T.; Hoshino H.; Kubota M.; Arai H.; Tagawa T.; Kimura S.; Sudo A.; Miyama S.; Takami Y.; Watanabe T.; Nishimura A.; Nishiyama K.; Miyake N.; Wada T.; Osaka H.; Kondo N.; Hayasaka K.; Matsumoto N.;
Cited for: VARIANT EIEE4 HIS-406; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANTS ILE-84 AND LEU-431;
A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype.
Romaniello R.; Saettini F.; Panzeri E.; Arrigoni F.; Bassi M.T.; Borgatti R.;
Cited for: VARIANT EIEE4 HIS-406;
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