Variant position: 231 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 LFVIFFIGLAIHGAERIVRG QTAESLAVHNITVCEQKISEW
Mouse LFVIFFIGLAIHGAERIVRG QTAESLEEHNLDICADKIEEW
Bovine LFVIFFIGLAIHGAQRIVRG QTAESLLKHQPRNCYQNISQW
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
222 – 261 Extracellular
54 – 286 Ferric oxidoreductase
222 – 222 Iron (heme axial ligand)
240 – 240 N-linked (GlcNAc...) asparagine
Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease.
Bustamante J.; Arias A.A.; Vogt G.; Picard C.; Galicia L.B.; Prando C.; Grant A.V.; Marchal C.C.; Hubeau M.; Chapgier A.; de Beaucoudrey L.; Puel A.; Feinberg J.; Valinetz E.; Janniere L.; Besse C.; Boland A.; Brisseau J.M.; Blanche S.; Lortholary O.; Fieschi C.; Emile J.F.; Boisson-Dupuis S.; Al-Muhsen S.; Woda B.; Newburger P.E.; Condino-Neto A.; Dinauer M.C.; Abel L.; Casanova J.L.;
Nat. Immunol. 12:213-221(2011)
Cited for: VARIANTS IMD34 PRO-178 AND PRO-231;
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