Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P04839: Variant p.Ala55Asp

Cytochrome b-245 heavy chain
Gene: CYBB
Feedback?
Variant information Variant position: help 55 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 Alanine (A) to Aspartate (D) at position 55 (A55D, p.Ala55Asp). 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 small size and hydrophobic (A) to medium size and acidic (D) 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 55 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 IPPKFFYTRKLLGSALALAR A PAACLNFNCMLILLPVCRNL 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                         IPPKFFYTRKLLGSALALARAPAACLNFNCMLILLPVCRNL

Mouse                         DGPKYNYTRKLLGSALALARAPAACLNFNCMLILLPVCRNL

Bovine                        IPDKFFYTRKLLGSALALARAPAACLNFNCMLILLPVCRNL
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
Transmembrane 49 – 69 Helical
Domain 54 – 286 Ferric oxidoreductase
Helix 49 – 67



Literature citations
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; 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;
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.