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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P05164: Variant p.Arg569Trp

Myeloperoxidase
Gene: MPO
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Variant information Variant position: help 569 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Arginine (R) to Tryptophan (W) at position 569 (R569W, p.Arg569Trp). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from large size and basic (R) to large size and aromatic (W) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In MPOD; suppress post-translational processing. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 569 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 745 The length of the canonical sequence.
Location on the sequence: help GLMATPAKLNRQNQIAVDEI R ERLFEQVMRIGLDLPALNMQ 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         GLMATPAKLNRQNQIAVDEIRERLFEQVMRIGLDLPALNMQ

Mouse                         GLMATPAKLNRQNQIVVDEIRERLFEQVMRIGLDLPALNMQ
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 49 – 745 89 kDa myeloperoxidase
Chain 155 – 745 84 kDa myeloperoxidase
Chain 165 – 745 Myeloperoxidase
Chain 279 – 745 Myeloperoxidase heavy chain
Helix 566 – 569



Literature citations
Myeloperoxidase (MPO) gene mutation in hereditary MPO deficiency.
Kizaki M.; Miller C.W.; Selsted M.E.; Koeffler H.P.;
Blood 83:1935-1940(1994)
Cited for: VARIANT MPOD TRP-569; Hereditary myeloperoxidase deficiency due to a missense mutation of arginine 569 to tryptophan.
Nauseef W.M.; Brigham S.; Cogley M.;
J. Biol. Chem. 269:1212-1216(1994)
Cited for: VARIANT MPOD TRP-569; Effect of the R569W missense mutation on the biosynthesis of myeloperoxidase.
Nauseef W.; Cogley M.; McCormick S.;
J. Biol. Chem. 271:9546-9549(1996)
Cited for: CHARACTERIZATION OF VARIANT MPOD TRP-569; De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues.
Smits D.J.; Schot R.; Popescu C.A.; Dias K.R.; Ades L.; Briere L.C.; Sweetser D.A.; Kushima I.; Aleksic B.; Khan S.; Karageorgou V.; Ordonez N.; Sleutels F.J.G.T.; van der Kaay D.C.M.; Van Mol C.; Van Esch H.; Bertoli-Avella A.M.; Roscioli T.; Mancini G.M.S.;
Hum. Genet. 0:0-0(2023)
Cited for: VARIANT MPOD TRP-569;
Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.