UniProtKB/Swiss-Prot P01911: Variant p.Arg42Ser

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 42 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 Arginine (R) to Serine (S) at position 42 (R42S, p.Arg42Ser). 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 large size and basic (R) to small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: -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: 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 DRB1*15:01. 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 DRB1*15:01 (PubMed:23510415). In the context of hematological malignancy and T cell transplantation, alleles DRB1*03:01 and DRB1*13:01 present minor histocompatibility antigens derived respectively from host MTHFD1 and LY75 proteins, contributing to T cell-mediated graft-versus-leukemia effect and complete remission (PubMed:19706888). Additional information on the polymorphism described.
Variant description: In allele DRB1*03:01, allele DRB1*03:02, allele DRB1*11:01, allele DRB1*11:04, allele DRB1*11:06, allele DRB1*11:11, allele DRB1*11:19, allele DRB1*13:01, allele DRB1*13:02, allele DRB1*13:03, allele DRB1*13:05, allele DRB1*13:07, allele DRB1*13:12, allele DRB1*14:01, allele DRB1*14:03, allele DRB1*14:05, allele DRB1*14:06 and allele DRB1*14:07. Any additional useful information about the variant.
Other resources: Links to websites of interest for the variant.

• Variant rs9269951 [ dbSNP | Ensembl ]

Sequence information

Variant position: 42 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 266 The length of the canonical sequence.
Location on the sequence: LSSPLALSGDTRPRFLWQPK R ECHFFNGTERVRFLDRYFYN 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: 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	30 – 266	HLA class II histocompatibility antigen, DRB1 beta chain
Topological domain	30 – 227	Extracellular
Region	30 – 124	Beta-1
Glycosylation	48 – 48	N-linked (GlcNAc...) asparagine
Beta strand	36 – 47

Literature citations

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