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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P04839: Variant p.Pro339His

Cytochrome b-245 heavy chain
Gene: CYBB
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Variant information Variant position: help 339 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 Proline (P) to Histidine (H) at position 339 (P339H, p.Pro339His). 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 medium size and hydrophobic (P) to medium size and polar (H) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 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 CGDX. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 339 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 570 The length of the canonical sequence.
Location on the sequence: help MEVGQYIFVKCPKVSKLEWH P FTLTSAPEEDFFSIHIRIVG 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                         MEVGQYIFVKCPKVSKLEWHPFTLTSAPEEDFFSIHIRIVG

Mouse                         MEVGQYIFVKCPKVSKLEWHPFTLTSAPEEDFFSIHIRIVG

Bovine                        MEVGQYIFVKCPVVSKLEWHPFTLTSAPEEDFFSIHIRIVG
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 2 – 570 Cytochrome b-245 heavy chain
Topological domain 283 – 570 Cytoplasmic
Domain 287 – 397 FAD-binding FR-type
Binding site 338 – 344
Cross 328 – 328 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
Cross 334 – 334 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)



Literature citations
Two novel point mutations in the cytochrome b 558 heavy chain gene, detected in two Japanese patients with X-linked chronic granulomatous disease.
Ariga T.; Sakiyama Y.; Matsumoto S.;
Hum. Genet. 94:441-441(1994)
Cited for: VARIANT CGDX HIS-339; X-linked chronic granulomatous disease: mutations in the CYBB gene encoding the gp91-phox component of respiratory-burst oxidase.
Rae J.; Newburger P.E.; Dinauer M.C.; Noack D.; Hopkins P.J.; Kuruto R.; Curnutte J.T.;
Am. J. Hum. Genet. 62:1320-1331(1998)
Cited for: VARIANTS CGDX ARG-20; SER-54; ARG-59; ARG-119; THR-156; GLN-209; ASN-222; ARG-222; TYR-222; LEU-223; ARG-244; LYS-309; LYS-315 DEL; GLU-322; PHE-325; PRO-333; HIS-339; PRO-356; ARG-405; GLU-408; ARG-408; HIS-415; LEU-415; PRO-422; ARG-453; CYS-516; ASP-534 AND ARG-537; Genetic analysis of 13 families with X-linked chronic granulomatous disease reveals a low proportion of sporadic patients and a high proportion of sporadic carriers.
Ariga T.; Furuta H.; Cho K.; Sakiyama Y.;
Pediatr. Res. 44:85-92(1998)
Cited for: VARIANTS CGDX MET-54; ASP-55; GLU-57; HIS-339 AND PHE-344; Uncommon missense and splice mutations and resulting biochemical phenotypes in German patients with X-linked chronic granulomatous disease.
Roesler J.; Heyden S.; Burdelski M.; Schaefer H.; Kreth H.-W.; Lehmann R.; Paul D.; Marzahn J.; Gahr M.; Roesen-Wolff A.;
Exp. Hematol. 27:505-511(1999)
Cited for: VARIANTS CGDX PHE-193; ARG-222; TYR-338; HIS-339 AND PRO-546; VARIANT ARG-364; Statistical and mutational analysis of chronic granulomatous disease in Japan with special reference to gp91-phox and p22-phox deficiency.
Ishibashi F.; Nunoi H.; Endo F.; Matsuda I.; Kanegasaki S.;
Hum. Genet. 106:473-481(2000)
Cited for: VARIANTS CGDX MET-54; ASP-55; GLU-57; TYR-101; ARG-209; GLY-224; LYS-309; TYR-338; HIS-339; PHE-344; GLU-389; PRO-420 AND ARG-516; Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients.
Koker M.Y.; Camcioglu Y.; van Leeuwen K.; Kilic S.S.; Barlan I.; Yilmaz M.; Metin A.; de Boer M.; Avcilar H.; Patiroglu T.; Yildiran A.; Yegin O.; Tezcan I.; Sanal O.; Roos D.;
J. Allergy Clin. Immunol. 132:1156-1163(2013)
Cited for: VARIANTS CGDX ASN-299; ASP-338; HIS-339; PHE-344 AND GLU-412;
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.