Variant position: 77 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 PVFTVEVKNYGVKNSEWIDA CINISHHYCNISDHVGDPSNS
Mouse PIFTVQVKVY---SGSWTDS CTNISDHCCNIYEQIMYPDVS
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
18 – 489 Interferon gamma receptor 1
18 – 245 Extracellular
79 – 79 N-linked (GlcNAc...) asparagine
86 – 86 N-linked (GlcNAc...) asparagine
77 – 85
61 – 61 V -> Q. Loss of function in the interferon-gamma-mediated signaling pathway.
74 – 86
In a novel form of IFN-gamma receptor 1 deficiency, cell surface receptors fail to bind IFN-gamma.
Jouanguy E.; Dupuis S.; Pallier A.; Doffinger R.; Fondaneche M.-C.; Fieschi C.; Lamhamedi-Cherradi S.; Altare F.; Emile J.-F.; Lutz P.; Bordigoni P.; Cokugras H.; Akcakaya N.; Landman-Parker J.; Donnadieu J.; Camcioglu Y.; Casanova J.-L.;
J. Clin. Invest. 105:1429-1436(2000)
Cited for: VARIANTS IMD27A GLU-61; TYR-77; 99-TRP--VAL-102 DEL AND GLU-218 DEL; SUBCELLULAR LOCATION;
Clinical features of dominant and recessive interferon gamma receptor 1 deficiencies.
Dorman S.E.; Picard C.; Lammas D.; Heyne K.; van Dissel J.T.; Baretto R.; Rosenzweig S.D.; Newport M.; Levin M.; Roesler J.; Kumararatne D.; Casanova J.L.; Holland S.M.;
Cited for: VARIANTS IMD27A CYS-66 AND TYR-77;
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;
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.