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UniProtKB/Swiss-Prot Q99665: Variant p.Leu808Arg

Interleukin-12 receptor subunit beta-2
Gene: IL12RB2
Variant information

Variant position:  808
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 Leucine (L) to Arginine (R) at position 808 (L808R, p.Leu808Arg).
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:  Change from medium size and hydrophobic (L) to large size and basic (R)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -2
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:  Heterozygotic variants Gly-313 and Arg-720 are associated with atopy, an immunological condition that can lead to clinical symptoms such as allergic rhinitis, sinusitis, asthma and eczema.
Additional information on the polymorphism described.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  808
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  862
The length of the canonical sequence.

Location on the sequence:   VLPAGDLPTHDGYLPSNIDD  L PSHEAPLADSLEELEPQHIS
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                         VLPAGDLPTHDGYLPSNIDDLPSHEAPLADSLEELEPQHIS

Mouse                         VTPVNYLPSHEGYLPSNIEDLSPHEADPTDSFD-LEHQHIS

Pig                           VLPVDYLPTHEGYLPSNMDYLPSHEAPITDSLEEL-PQHIS

Bovine                        ILPVDYLPTHDGYLPSNMDYLPSHEAPITDPLEEL-PQHIS

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.

TypePositionsDescription
Chain 24 – 862 Interleukin-12 receptor subunit beta-2
Topological domain 644 – 862 Cytoplasmic
Modified residue 800 – 800 Phosphotyrosine
Alternative sequence 660 – 862 Missing. In isoform 2.
Mutagenesis 800 – 800 Y -> F. Loss of STAT4 activation. Abolishes SOCS3 binding.
Mutagenesis 801 – 801 L -> A. Abolishes in vitro STAT4 binding to a phosphorylated Y-800 peptide.
Mutagenesis 802 – 802 P -> A. No effect on in vitro STAT4 binding to a phosphorylated Y-800 peptide.
Mutagenesis 803 – 803 S -> A. No effect on in vitro STAT4 binding to a phosphorylated Y-800 peptide.
Mutagenesis 804 – 804 N -> A. No effect on in vitro STAT4 binding to a phosphorylated Y-800 peptide.


Literature citations

Submission
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS VAL-13; GLN-149; HIS-426; ASP-465 AND ARG-808;

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.