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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P13747: Variant p.Arg178Gly

HLA class I histocompatibility antigen, alpha chain E
Gene: HLA-E
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Variant information Variant position: help 178 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Arginine (R) to Glycine (G) at position 178 (R178G, p.Arg178Gly). 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: help Change from large size and basic (R) to glycine (G) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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: help 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: help In allele E*01:04. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 178 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 358 The length of the canonical sequence.
Location on the sequence: help DTAAQISEQKSNDASEAEHQ R AYLEDTCVEWLHKYLEKGKE 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         DTAAQISEQKSNDASEAEHQRAYLEDTCVEWLHKYLEKGKE

Chimpanzee                    DTAAQISERKSNDACEAEHQRAYLEDTCVEWLHKYLEKGKE

Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 22 – 358 HLA class I histocompatibility antigen, alpha chain E
Topological domain 22 – 305 Extracellular
Region 112 – 203 Alpha-2
Binding site 164 – 164
Binding site 164 – 164
Binding site 167 – 167
Binding site 167 – 167
Binding site 177 – 177
Binding site 180 – 180
Binding site 180 – 180
Binding site 192 – 192
Binding site 192 – 192
Disulfide bond 122 – 185
Mutagenesis 167 – 167 K -> A. Impairs folding.
Mutagenesis 170 – 170 D -> A. Has no impact on the affinity for KLRD1-KLRC1.
Mutagenesis 173 – 173 E -> A. Impairs the recognition by KLRD1-KLRC1.
Mutagenesis 175 – 175 E -> A. Has no impact on the affinity for KLRD1-KLRC1.
Mutagenesis 176 – 176 H -> A. Has no impact on the affinity for KLRD1-KLRC1.
Mutagenesis 183 – 183 D -> A. Impairs the recognition by KLRD1-KLRC1.
Mutagenesis 187 – 187 E -> A. Reduces the affinity for KLRD1-KLRC1.
Helix 173 – 182



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.