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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
Type of variant: help LP/P [Disclaimer]
Residue change: help From Valine (V) to Glycine (G) at position 63 (V63G, p.Val63Gly).
Physico-chemical properties: help Change from medium size and hydrophobic (V) to glycine (G)
BLOSUM score: help -3
Variant description: help In IMD27A; interferon-gamma-mediated signaling pathway severely reduced although not completely abrogated.


Sequence information Variant position: help 63
Protein sequence length: help 489
Location on the sequence: help NPIVYWEYQIMPQVPVFTVE V KNYGVKNSEWIDACINISHH
Residue conservation: help 
Human                         NPIVYWEYQIMPQVPVFTVEVKNYGVKNSEWIDACINISHH

Mouse                         NPVVCWEYQNMSQTPIFTVQVKVY---SGSWTDSCTNISDH
Sequence annotation in neighborhood: help
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.