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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P01920: Variant p.Val59Leu

HLA class II histocompatibility antigen, DQ beta 1 chain
Gene: HLA-DQB1
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Variant information Variant position: help 59 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 Valine (V) to Leucine (L) at position 59 (V59L, p.Val59Leu). 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 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: 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 The following alleles of HLA-DQB1 are known: DQB1*02:01, DQB1*02:02, DQB1*02:03, DQB1*02:04, DQB1*02:05, DQB1*03:01, DQB1*03:02, DQB1*03:03, DQB1*03:04, DQB1*03:05, DQB1*03:06, DQB1*03:07, DQB1*03:08, DQB1*03:09, DQB1*03:10, DQB1*03:11, DQB1*03:12, DQB1*03:13, DQB1*03:14, DQB1*03:15, DQB1*03:16, DQB1*03:17, DQB1*03:18, DQB1*03:19, DQB1*03:20, DQB1*03:21, DQB1*03:22, DQB1*03:23, DQB1*03:24, DQB1*03:25, DQB1*03:26, DQB1*04:01, DQB1*04:02, DQB1*04:03, DQB1*05:01, DQB1*05:02, DQB1*05:03, DQB1*05:04, DQB1*05:05, DQB1*06:01, DQB1*06:02, DQB1*06:03, DQB1*06:04, DQB1*06:05, DQB1*06:06, DQB1*06:07, DQB1*06:08, DQB1*06:09, DQB1*06:10, DQB1*06:11, DQB1*06:12, DQB1*06:13, DQB1*06:14, DQB1*06:15, DQB1*06:16, DQB1*06:17, DQB1*06:18, DQB1*06:19, DQB1*06:20, DQB1*06:21, DQB1*06:22, DQB1*06:23, DQB1*06:24, DQB1*06:25, DQB1*06:27, DQB1*06:28, DQB1*06:29, DQB1*06:30, DQB1*06:31, DQB1*06:32, DQB1*06:33, DQB1*06:34, DQB1*06:35, DQB1*06:36, DQB1*06:37, DQB1*06:38, and DQB1*06:39. The sequence shown is that of DQB1*03:01.DQ2 (heterodimer of DQA1*05:01/DQB1*02:01) is associated with more than 90% of celiac disease patients. A minority displays DQ8 (heterodimer of DQA1*03/DQB1*03:02). - DQ0602 (heterodimer of DQA1*01:02/DQB1*06:02) confers dominant protection against type 1 diabetes (T1D) and strong susceptibility to narcolepsy. DQB1*06:02 has been found to be present in most of the narcolepsy patients. As well 98% of the patients with an HCRT deficiency are positive for DQB1*06:02. - Additional information on the polymorphism described.
Variant description: help In allele DQB1*03:18. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 59 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 261 The length of the canonical sequence.
Location on the sequence: help FVYQFKAMCYFTNGTERVRY V TRYIYNREEYARFDSDVEVY 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 33 – 261 HLA class II histocompatibility antigen, DQ beta 1 chain
Topological domain 33 – 230 Extracellular
Region 33 – 126 Beta-1
Glycosylation 51 – 51 N-linked (GlcNAc...) asparagine
Disulfide bond 47 – 111
Beta strand 55 – 64



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.