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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P68871: Variant p.Lys67Ile

Hemoglobin subunit beta
Gene: HBB
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Variant information Variant position: help 67 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help US 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 Lysine (K) to Isoleucine (I) at position 67 (K67I, p.Lys67Ile). 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 (K) to medium size and hydrophobic (I) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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

Variant description: help In Vigo; O(2) affinity down. Any additional useful information about the variant.


Sequence information Variant position: help 67 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 147 The length of the canonical sequence.
Location on the sequence: help GDLSTPDAVMGNPKVKAHGK K VLGAFSDGLAHLDNLKGTFA 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.
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 2 – 147 Hemoglobin subunit beta
Binding site 64 – 64 distal binding residue
Binding site 83 – 83
Site 60 – 60 Not glycated
Site 83 – 83 Not glycated
Modified residue 51 – 51 Phosphothreonine
Modified residue 60 – 60 N6-acetyllysine
Modified residue 83 – 83 N6-acetyllysine
Glycosylation 67 – 67 N-linked (Glc) (glycation) lysine
Helix 59 – 75



Literature citations
Low affinity hemoglobinopathy (Hb Vigo) due to a new mutation of beta globin gene (c200 A>T; Lys>Ile). A cause of rare anemia misdiagnosis.
Manu Pereira M.D.; Ropero P.; Loureiro C.; Vives Corrons J.L.;
Am. J. Hematol. 92:38-40(2017)
Cited for: VARIANT VIGO ILE-67; FUNCTION;
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.