UniProtKB/Swiss-Prot Q95460: Variant p.Glu74Gly

Major histocompatibility complex class I-related protein 1
Gene: MR1
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Variant information Variant position:

74 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 Glutamate (E) to Glycine (G) at position 74 (E74G, p.Glu74Gly). 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 medium size and acidic (E) to glycine (G) 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:

Initially considered monomorphic, however recent studies show MR1 genetic diversity in human populations with allelic variants that impact antigen presentation. An analysis of a small cohort of 56 donors found six distinct alleles with MR1*01 and MR1*02 being the most frequent ones. The sequence shown is that of MR1*01. Additional information on the polymorphism described.
Variant description:

In allele MR1*05. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs376289951 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

PITTYDSVTRQKEPRAPWMA E NLAPDHWERYTQLLRGWQQM 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                         PITTYDSVTRQKE----------------------------------------------------------------------------------------------------------------------------------------------PRAP-WMAE----------------------------------------------NLAPDHWERYTQLLRG--WQQM--------------------------------

Chimpanzee                    PITTYDSVTRQKE----------------------------

Mouse                         PITTYDSVTRQKE----------------------------

Rat                           PITTYDSVTRQKE----------------------------

Bovine                        PITMYNSVSQLKE----------------------------

Caenorhabditis elegans        PHVVFDRETRPREDVTVKATDRGDRPLIGFCQFSVEVVDIN

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	23 – 341	Major histocompatibility complex class I-related protein 1
Topological domain	23 – 302	Extracellular
Region	23 – 201	Antigen-binding cleft
Region	23 – 109	Alpha-1
Binding site	65 – 65	covalent
Binding site	65 – 65	covalent
Binding site	65 – 65	covalent
Binding site	65 – 65
Binding site	65 – 65	covalent
Binding site	65 – 65	covalent
Binding site	80 – 80
Mutagenesis	65 – 65	K -> A. Associates with B2M and translocates to plasma membrane in the absence of 6-FP. Refolds and adopts a stable structural conformation in the absence of ligand in vitro. Impairs recognition by pan-cancer TCR, MC.7.G5. Loss of pyridoxal binding.
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.
Mutagenesis	72 – 72	M -> P. Markedly decreases expression at the cell surface likely due to protein misfolding.
Beta strand	74 – 76

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.