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UniProtKB/Swiss-Prot Q95460: Variant p.Ala77Val

Major histocompatibility complex class I-related gene protein
Gene: MR1
Variant information

Variant position:  77
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Alanine (A) to Valine (V) at position 77 (A77V, p.Ala77Val).
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 hydrophobic (A) to medium size and hydrophobic (V)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
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:  Several individuals from different ethnic background were analyzed for polymorphism. MR1 was identical in all individuals analyzed, except one. MR1 is not polymorphic.
Additional information on the polymorphism described.

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

Sequence information

Variant position:  77
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  341
The length of the canonical sequence.

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                         TYDSVTRQKE----------------------------------------------------------------------------------------------------------------------------------------------PRAP-W-----------MAENLAPDH-----------------------------------WERYTQLLRG--W--------------------------------QQMFKV

Chimpanzee                    TYDSVTRQKE-------------------------------

Mouse                         TYDSVTRQKE-------------------------------

Rat                           TYDSVTRQKE-------------------------------

Bovine                        MYNSVSQLKE-------------------------------


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.

Chain 23 – 341 Major histocompatibility complex class I-related gene protein
Topological domain 23 – 302 Extracellular
Region 23 – 201 Antigen-binding cleft
Region 23 – 109 Alpha-1
Binding site 65 – 65 Pathogen-derived metabolite antigen (5-(2-oxoethylideneamino)-6-D-ribitylaminouracil or 5-(2-oxopropylideneamino)-6-D-ribitylaminouracil) (covalent); drug metabolite (2,4-diamino-6-formylpteridine) (covalent)
Binding site 80 – 80 Pathogen-derived metabolite antigen (5-(2-oxopropylideneamino)-6-D-ribitylaminouracil)
Mutagenesis 65 – 65 K -> A. Associates with B2M and translocates to plasma membrane in the absence of 6-FP. Impairs recognition by pan-cancer TCR, MC.7.G5.
Mutagenesis 65 – 65 K -> R. Fails to refold in the presence of 6-FP. Impairs the association with B2M and translocation to the plasma membrane.

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.