Variant position: 14 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 489 The length of the canonical sequence.
Location on the sequence:
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: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human MALLFLLPLVMQG VSRAEMGTADLGPSSVPTPTN
Mouse MILLVVLMLSAKV GSGALTSTEDPEPPSVPVPTN
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.
Type Positions Description
1 – 17
34 – 34 N-linked (GlcNAc...) asparagine
1 – 28 MALLFLLPLVMQGVSRAEMGTADLGPSS -> MLLKSPENSLLQFQFKYG. In isoform 2.
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.;
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;
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.