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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P15260: Variant p.Ile352Met

Interferon gamma receptor 1
Gene: IFNGR1
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Variant information Variant position: help 352
Type of variant: help LB/B
Residue change: help From Isoleucine (I) to Methionine (M) at position 352 (I352M, p.Ile352Met).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help 1
Polymorphism: help A genetic variation in the IFNGR1 gene is associated with susceptibility to Helicobacter pylori infection [MIM:600263].
Variant description: help No significant effect on interferon-gamma-mediated signaling pathway.
Other resources: help


Sequence information Variant position: help 352
Protein sequence length: help 489
Location on the sequence: help PGMHTEDNPGKVEHTEELSS I TEVVTTEENIPDVVPGSHLT
Residue conservation: help 
Human                         PGMHTEDNPGKVEHTEELSSITEVVTTEENIPDVVPGSHLT

Mouse                         P-----DSPEAAEQ-EELSKETKALEAGGSTSAMTPDSPPT
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 18 – 489 Interferon gamma receptor 1
Topological domain 267 – 489 Cytoplasmic
Region 329 – 437 Disordered
Compositional bias 349 – 360 Polar residues
Modified residue 369 – 369 Phosphoserine
Modified residue 372 – 372 Phosphothreonine
Alternative sequence 197 – 489 Missing. In isoform 2.



Literature citations
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.