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UniProtKB/Swiss-Prot P38484: Variant p.Gly227Arg

Interferon gamma receptor 2
Gene: IFNGR2
Variant information

Variant position:  227
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Glycine (G) to Arginine (R) at position 227 (G227R, p.Gly227Arg).
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:  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:  -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:  In IMD28; encodes misfolded protein with abnormal glycosylation; affects receptor trafficking to the cell surface; reduces response to IFNG.
Any additional useful information about the variant.



Sequence information

Variant position:  227
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  337
The length of the canonical sequence.

Location on the sequence:   VYCLQVQAQLLWNKSNIFRV  G HLSNISCYETMADASTELQQ
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.

Sequence annotation in neighborhood:  
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 22 – 337 Interferon gamma receptor 2
Topological domain 28 – 247 Extracellular
Domain 142 – 240 Fibronectin type-III 2
Glycosylation 219 – 219 N-linked (GlcNAc...) asparagine
Glycosylation 231 – 231 N-linked (GlcNAc...) asparagine
Disulfide bond 209 – 234
Mutagenesis 231 – 231 N -> Q. Complete inhibition of transport to the cell membrane.


Literature citations

Severe disseminated mycobacterial infection in a boy with a novel mutation leading to IFN-gammaR2 deficiency.
Kilic S.S.; van Wengen A.; de Paus R.A.; Celebi S.; Meziane B.; Hafizoglu D.; van Dissel J.T.; van de Vosse E.;
J. Infect. 65:568-572(2012)
Cited for: VARIANT IMD28 ARG-227; CHARACTERIZATION OF VARIANT IMD28 ARG-227;

Partial IFN-gammaR2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation.
Moncada-Velez M.; Martinez-Barricarte R.; Bogunovic D.; Kong X.F.; Blancas-Galicia L.; Tirpan C.; Aksu G.; Vincent Q.B.; Boisson B.; Itan Y.; Ramirez-Alejo N.; Okada S.; Kreins A.Y.; Bryant V.L.; Franco J.L.; Migaud M.; Espinosa-Padilla S.; Yamazaki-Nakashimada M.; Espinosa-Rosales F.; Kutukculer N.; Abel L.; Bustamante J.; Vogt G.; Casanova J.L.; Boisson-Dupuis S.;
Blood 122:2390-2401(2013)
Cited for: VARIANTS IMD28 PHE-124 AND ARG-141; CHARACTERIZATION OF VARIANTS IMD28 CYS-114; PHE-124; ARG-141; ASN-168 AND ARG-227; SUBCELLULAR LOCATION;

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.