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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P49447: Variant p.Gly88Arg

Transmembrane ascorbate-dependent reductase CYB561
Gene: CYB561
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Variant information Variant position: help 88 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 Glycine (G) to Arginine (R) at position 88 (G88R, p.Gly88Arg). 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 glycine (G) to large size and basic (R) 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 ORTHYP2. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 88 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 251 The length of the canonical sequence.
Location on the sequence: help ALLVYRVFRNEAKRTTKVLH G LLHIFALVIALVGLVAVFDY 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                         ALLVYRVFRNEAKRTTKVLHGLLHIFALVIALVGLVAVFDY

Mouse                         ALLVYRVFRREAKRTTKILHGLLHVFAFIIALVGLVAVFDY

Pig                           ALLVYRVFRNEAKRTTKILHGLLHVLAFVIALVGLVAVFDY

Bovine                        ALLVYRVFRNEAKRTTKVLHGLLHVFAFVIALVGLVAVFEH

Sheep                         ALLVYRVFRNEAKRTTKVLHGLLHVFAFVIALVGLVAVFEH

Xenopus laevis                ALLVYRVFRHETKRSTKILHGVLHIMALVISLVGVIAVFQY

Caenorhabditis elegans        ALLVYRVFRNERKKFSKTLHVILHSCVLVFMLMALKAVFDY

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 1 – 251 Transmembrane ascorbate-dependent reductase CYB561
Transmembrane 86 – 106 Helical
Domain 19 – 220 Cytochrome b561
Binding site 73 – 73
Binding site 80 – 80
Binding site 80 – 80
Binding site 84 – 84
Binding site 87 – 87 axial binding residue



Literature citations
Mutations in CYB561 causing a novel orthostatic hypotension syndrome.
van den Berg M.P.; Almomani R.; Biaggioni I.; van Faassen M.; van der Harst P.; Sillje H.H.W.; Mateo Leach I.; Hemmelder M.H.; Navis G.; Luijckx G.J.; de Brouwer A.P.M.; Venselaar H.; Verbeek M.M.; van der Zwaag P.A.; Jongbloed J.D.H.; van Tintelen J.P.; Wevers R.A.; Kema I.P.;
Circ. Res. 122:846-854(2018)
Cited for: INVOLVEMENT IN ORTHYP2; VARIANTS ORTHYP2 44-TRP--GLN-251 DEL AND ARG-88; TISSUE SPECIFICITY;
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.