UniProtKB/Swiss-Prot P15260: Variant p.Val61Ile

Interferon gamma receptor 1
Gene: IFNGR1
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Variant information Variant position:

61 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

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:

From Valine (V) to Isoleucine (I) at position 61 (V61I, p.Val61Ile). 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:

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:

3 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:

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:

May influence susceptibility to atopic dermatitis complicated by eczema herpeticum; could be detected on the cell surface; no significant effect on interferon-gamma-mediated signaling pathway. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs17175322 [ dbSNP | Ensembl ]

Sequence information Variant position:

61 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:

NMNPIVYWEYQIMPQVPVFT V EVKNYGVKNSEWIDACINIS 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                         NMNPIVYWEYQIMPQVPVFTVEVKNYGVKNSEWIDACINIS

Mouse                         NLNPVVCWEYQNMSQTPIFTVQVKVY---SGSWTDSCTNIS

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
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
Submission
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS ILE-61; PRO-335 AND PRO-467; 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.