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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P15260: Variant p.Val63Gly

Interferon gamma receptor 1
Gene: IFNGR1
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Variant information Variant position: help 63 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 Valine (V) to Glycine (G) at position 63 (V63G, p.Val63Gly). 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 (V) to glycine (G) 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 IMD27A; interferon-gamma-mediated signaling pathway severely reduced although not completely abrogated. Any additional useful information about the variant.


Sequence information Variant position: help 63 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 489 The length of the canonical sequence.
Location on the sequence: help NPIVYWEYQIMPQVPVFTVE V KNYGVKNSEWIDACINISHH 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                         NPIVYWEYQIMPQVPVFTVEVKNYGVKNSEWIDACINISHH

Mouse                         NPVVCWEYQNMSQTPIFTVQVKVY---SGSWTDSCTNISDH
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 18 – 489 Interferon gamma receptor 1
Topological domain 18 – 245 Extracellular
Glycosylation 79 – 79 N-linked (GlcNAc...) asparagine
Mutagenesis 61 – 61 V -> Q. Loss of function in the interferon-gamma-mediated signaling pathway.
Beta strand 58 – 65



Literature citations
A point mutation in a domain of gamma interferon receptor 1 provokes severe immunodeficiency.
Allende L.M.; Lopez-Goyanes A.; Paz-Artal E.; Corell A.; Garcia-Perez M.A.; Varela P.; Scarpellini A.; Negreira S.; Palenque E.; Arnaiz-Villena A.;
Clin. Diagn. Lab. Immunol. 8:133-137(2001)
Cited for: VARIANT IMD27A GLY-63; Functional analysis of naturally occurring amino acid substitutions in human IFN-gammaR1.
van de Wetering D.; de Paus R.A.; van Dissel J.T.; van de Vosse E.;
Mol. Immunol. 47:1023-1030(2010)
Cited for: CHARACTERIZATION OF VARIANTS IMD27A GLU-61; GLY-63; CYS-66; PHE-77; TYR-77; TYR-85 AND THR-87; CHARACTERIZATION OF VARIANTS MET-14; ILE-61; LEU-149; PRO-335; MET-352 AND PRO-467; FUNCTION; MUTAGENESIS OF VAL-61;
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.