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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P79483: Variant p.Leu39Tyr

HLA class II histocompatibility antigen, DR beta 3 chain
Gene: HLA-DRB3
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Variant information Variant position: help 39 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Leucine (L) to Tyrosine (Y) at position 39 (L39Y, p.Leu39Tyr). 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: help Change from medium size and hydrophobic (L) to large size and aromatic (Y) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -1 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: help Highly polymorphic. Polymorphic residues encode for the beta-1 domain of the peptide-binding cleft, where they contribute to variations in peptide binding and TCR recognition among different alleles. The sequence shown is that of DRB3*01:01. The sequences of common representative alleles of serologically distinct allele groups as defined in the catalog of common and well-documented HLA alleles, are described as variants of DRB3*01:01. The most frequent alleles in human population are DRB3*01:01 (DR52a), DRB3*02:02 (DR52b) and DRB3*03:01 (DR52c) (PubMed:23510415). Allele DRB3*01:01 belongs to an ancestral haplotype and is associated with autoimmune diseases that are linked to antigen presentation. It is found in more than 95% of the homozygous HPA-1B mothers that produce anti-HPA-1A antibodies, leading to neonatal alloimmune thrombocytopenia (NAIT) (PubMed:19494351, PubMed:19535639). In the context of hematological malignancy and T cell transplantation, alleles DRB3*01:01 and DRB3*02:02 present minor histocompatibility antigens derived respectively from host PTK2B and MR1 proteins, contributing to T cell-mediated graft-versus-leukemia effect and complete remission (PubMed:19706888). Allele DRB3*03:01 plays an important role in the outcome of HLA-identical sex-mismatched organ transplantation. Presents to T-helper cells a minor histocompatibility antigen encoded by the Y chromosome RPS4Y1 (VIKVNDTVQI), leading to the maturation of dendritic cells and expansion of antigen-specific cytotoxic T cells, ultimately triggering transplant rejection (PubMed:12944060). Additional information on the polymorphism described.
Variant description: help In allele DRB3*01:14; requires 2 nucleotide substitutions. Any additional useful information about the variant.


Sequence information Variant position: help 39 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 266 The length of the canonical sequence.
Location on the sequence: help LMVLSSRLAFAGDTRPRFLE L RKSECHFFNGTERVRYLDRY 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.
Sequence annotation in neighborhood: help 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 30 – 266 HLA class II histocompatibility antigen, DR beta 3 chain
Topological domain 30 – 227 Extracellular
Region 30 – 124 Beta-1
Site 40 – 40 Self-peptide antigen
Glycosylation 48 – 48 N-linked (GlcNAc...) asparagine
Beta strand 36 – 47



Literature citations
No reference for the current variant in UniProtKB/Swiss-Prot.
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.