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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P68871: Variant p.Val68Asp

Hemoglobin subunit beta
Gene: HBB
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Variant information Variant position: help 68 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 Valine (V) to Aspartate (D) at position 68 (V68D, p.Val68Asp). 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 medium size and hydrophobic (V) to medium size and acidic (D) 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 Bristol. Any additional useful information about the variant.


Sequence information Variant position: help 68 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 DLSTPDAVMGNPKVKAHGKK V LGAFSDGLAHLDNLKGTFAT 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
Modified residue 88 – 88 Phosphothreonine
Glycosylation 67 – 67 N-linked (Glc) (glycation) lysine
Helix 59 – 75



Literature citations
A novel silent posttranslational mechanism converts methionine to aspartate in hemoglobin Bristol (beta 67[E11] Val-Met->Asp).
Rees D.C.; Rochette J.; Schofield C.; Green B.; Morris M.; Parker N.E.; Sasaki H.; Tanaka A.; Ohba Y.; Clegg J.B.;
Blood 88:341-348(1996)
Cited for: INVOLVEMENT IN HEIBAN; VARIANT BRISTOL ASP-68;
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.