Variant position: 227 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 445 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 HFELPDLGPIGANGLANPRD FLIPIAWYEDRQVPGGYTVIN
Mouse HFELPDLGPIGANGLANPRD FLIPVAWYEDRRVPGGYTVIN
Caenorhabditis elegans HFQLPDLGPIGANGLANPRD FEAPVAWFEDLDVE--FTIIN
Drosophila HFVLPDLGPIGANGLANPRD FETPVAWFDDRDVKD-FQVIS
Slime mold HFKLPDLGPIGANGLANPRD FLSPVAAYEKKEGIE-HTKIN
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 – 445 Homogentisate 1,2-dioxygenase
227 – 230
Mutation and polymorphism analysis of the human homogentisate 1, 2-dioxygenase gene in alkaptonuria patients.
Beltran-Valero de Bernabe D.; Granadino B.; Chiarelli I.; Porfirio B.; Mayatepek E.; Aquaron R.; Moore M.M.; Festen J.J.M.; Sanmarti R.; Penalva M.A.; de Cordoba S.R.;
Am. J. Hum. Genet. 62:776-784(1998)
Cited for: VARIANTS AKU ALA-42; GLY-97; GLY-153; ILE-189; THR-216; HIS-225; SER-227 AND VAL-368;
Novel mutations in the homogentisate 1,2 dioxygenase gene identified in Jordanian patients with alkaptonuria.
Rheumatol. Int. 32:1741-1746(2012)
Cited for: VARIANTS AKU SER-227 AND ASN-369;
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