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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P15260: Variant p.Val14Met

Interferon gamma receptor 1
Gene: IFNGR1
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Variant information Variant position: help 14 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LB/B 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 Methionine (M) at position 14 (V14M, p.Val14Met). 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 Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 1 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

Polymorphism: help A genetic variation in the IFNGR1 gene is associated with susceptibility to Helicobacter pylori infection [MIM:600263]. Additional information on the polymorphism described.
Variant description: help May influence susceptibility to autoimmune and inflammatory diseases such as systemic lupus erythematosus, atopic asthma and atopic dermatitis complicated by eczema herpeticum; no significant effect on interferon-gamma-mediated signaling pathway. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 14 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 MALLFLLPLVMQG V SRAEMGTADLGPSSVPTPTN 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                         MALLFLLPLVMQGVSRAEMGTADLGPSSVPTPTN

Mouse                         MILLVVLMLSAKVGSGALTSTEDPEPPSVPVPTN

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
Signal peptide 1 – 17
Glycosylation 34 – 34 N-linked (GlcNAc...) asparagine
Alternative sequence 1 – 28 MALLFLLPLVMQGVSRAEMGTADLGPSS -> MLLKSPENSLLQFQFKYG. In isoform 2.



Literature citations
Association of the interferon-gamma receptor variant (Val14Met) with systemic lupus erythematosus.
Tanaka Y.; Nakashima H.; Hisano C.; Kohsaka T.; Nemoto Y.; Niiro H.; Otsuka T.; Otsuka T.; Imamura T.; Niho Y.;
Immunogenetics 49:266-271(1999)
Cited for: INVOLVEMENT IN SUSCEPTIBILITY TO SYSTEMIC LUPUS ERYTHEMATOSUS; VARIANT MET-14; Association of IFN-gamma and IFN regulatory factor 1 polymorphisms with childhood atopic asthma.
Nakao F.; Ihara K.; Kusuhara K.; Sasaki Y.; Kinukawa N.; Takabayashi A.; Nishima S.; Hara T.;
J. Allergy Clin. Immunol. 107:499-504(2001)
Cited for: VARIANT MET-14; 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; Targeted deep sequencing identifies rare loss-of-function variants in IFNGR1 for risk of atopic dermatitis complicated by eczema herpeticum.
Gao L.; Bin L.; Rafaels N.M.; Huang L.; Potee J.; Ruczinski I.; Beaty T.H.; Paller A.S.; Schneider L.C.; Gallo R.; Hanifin J.M.; Beck L.A.; Geha R.S.; Mathias R.A.; Barnes K.C.; Leung D.Y.M.;
J. Allergy Clin. Immunol. 136:1591-1600(2015)
Cited for: CHARACTERIZATION OF VARIANTS MET-14; ILE-61 AND CYS-397;
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.