UniProtKB/Swiss-Prot P28068: Variant p.Ser45Phe

HLA class II histocompatibility antigen, DM beta chain
Gene: HLA-DMB
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Variant information Variant position:

45 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 Serine (S) to Phenylalanine (F) at position 45 (S45F, p.Ser45Phe). 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 small size and polar (S) to large size and aromatic (F) 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:

The following alleles of DMB are known: DMB*01:01, DMB*01:02, DMB*01:03, DMB*01:04 (DMB3.4), DMB*01:05, DMB*01:06, and DMB*01:07. The sequence shown is that of DMB*01:03. Additional information on the polymorphism described.
Variant description:

In allele DMB*01:06. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs41560814 [ dbSNP | Ensembl ]

Sequence information Variant position:

45 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

263 The length of the canonical sequence.
Location on the sequence:

VESTCLLDDAGTPKDFTYCI S FNKDLLTCWDPEENKMAPCE 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                         VESTCLLDDAGTPKDFTYCISFNKDLLTCWDPEENKMAPCE

Mouse                         VESTCVLDDAGTPQDFTYCVSFNKDLLACWDPIVGKIVPCE

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	19 – 263	HLA class II histocompatibility antigen, DM beta chain
Topological domain	19 – 218	Lumenal
Region	19 – 112	Beta-1
Disulfide bond	29 – 97
Disulfide bond	43 – 53
Mutagenesis	26 – 26	E -> K. Decreases the interaction with MHCII and peptide exchange.
Mutagenesis	49 – 49	D -> K. Decreases the interaction with MHCII and peptide exchange.
Mutagenesis	49 – 49	D -> N. Increases the interaction with MHCII and peptide exchange; when associated with Q-65.
Mutagenesis	65 – 65	E -> Q. Increases the interaction with MHCII and peptide exchange; when associated with N-49.
Mutagenesis	65 – 65	E -> R. Decreases the interaction with MHCII and peptide exchange.
Beta strand	37 – 46

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.