Variant position: 209 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 570 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 IITSSTKTIRRSYFEVFWYT HHLFVIFFIGLAIHGAERIVR
Mouse IITSSTKTIRRSYFEVFWYT HHLFVIFFIGLAIHGAERIVR
Bovine IITSSTKTIRRSYFEVFWYT HHLFVIFFIGLAIHGAQRIVR
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
2 – 570 Cytochrome b-245 heavy chain
201 – 221 Helical;
54 – 286 Ferric oxidoreductase
209 – 209 Iron (heme axial ligand)
222 – 222 Iron (heme axial ligand)
Point mutations in the beta-subunit of cytochrome b558 leading to X-linked chronic granulomatous disease.
Bolscher B.G.J.M.; de Boer M.; de Klein A.; Weening R.S.; Roos D.;
Cited for: VARIANTS CGD ARG-101; THR-156; TYR-209; SER-244 AND ALA-389;
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