Variant position: 225 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 261 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 SWGGYVLYPQVMEFWQGQTN RLHDRIVFRRGLPTGDSPLGP
Mouse YWGGYILYPQVMEFWQGQTN RLHDRIVFRRGLATGDSPLGP
Rat YWGGYILYPQVMEFWQGQTN RLHDRIVFRRGLATGDSPLGP
Bovine YWGGYILYPQVMEFWQGQTN RLHDRIVFRRGLLTGDSPLGP
Slime mold FWGGWRIKPYAFEFWQGKSG RIHDRFKYVP-----------
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 – 261 Pyridoxine-5'-phosphate oxidase
225 – 227 Pyridoxal 5'-phosphate binding
219 – 219 FMN
229 – 229 FMN
238 – 238 Phosphothreonine
241 – 241 Phosphoserine
70 – 261 Missing. In isoform 2.
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: VARIANT PNPOD HIS-225;
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