UniProtKB/Swiss-Prot P13747: Variant p.Gly128Arg

HLA class I histocompatibility antigen, alpha chain E
Gene: HLA-E
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Variant information Variant position:

128 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 Glycine (G) to Arginine (R) at position 128 (G128R, p.Gly128Arg). 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 glycine (G) to large size and basic (R) 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 are known: E*01:01 and E*01:03 (PubMed:10064069, PubMed:16570139, PubMed:16702430, PubMed:28127896, PubMed:3131426). The frequency of E*01:01 and E*01:03 alleles in the population is about equal suggesting balanced selection in diverse populations. Evolutionary studies suggest that E*01:03 is the original allele (PubMed:12445303). Two other alleles has been described E*01:02 and E*01:04 (PubMed:1977695, PubMed:3260916). Allele E*01:02 was found to be identical to HLA E*01:01 (PubMed:22665232, PubMed:3260916). The existence of allele E*01:04 is uncertain as it could not be confirmed in further studies (PubMed:12445303, PubMed:1977695). The sequence shown is that of E*01:03 (PubMed:10064069, PubMed:16570139, PubMed:16702430, PubMed:28127896). Additional information on the polymorphism described.
Variant description:

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

Links to websites of interest for the variant.

Variant rs1264457 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

QSEAGSHTLQWMHGCELGPD G RFLRGYEQFAYDGKDYLTLN 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                         QSEAGSHTLQWMHGCELGPDGRFLRGYEQFAYDGKDYLTLN

Chimpanzee                    QSEAGSHTLQWMHGCDLGPDGRFLRGYEQFAYDGKDYLTLN

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	22 – 358	HLA class I histocompatibility antigen, alpha chain E
Topological domain	22 – 305	Extracellular
Region	112 – 203	Alpha-2
Disulfide bond	122 – 185
Mutagenesis	110 – 110	E -> A. Has no impact on the affinity for KLRD1-KLRC1.
Mutagenesis	129 – 129	R -> A. Has no impact on the affinity for KLRD1-KLRC1.
Beta strand	128 – 139

Literature citations
A new HLA-E allele in the Brazilian population.
Veiga-Castelli L.C.; Castelli E.C.; Silva-Junior W.A.; Donadi E.A.;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-295; VARIANT ARG-128;

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.