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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P68871: Variant p.Thr39Asn

Hemoglobin subunit beta
Gene: HBB
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Variant information Variant position: help 39 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 Threonine (T) to Asparagine (N) at position 39 (T39N, p.Thr39Asn). 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 Similar physico-chemical property. Both residues are medium size and polar. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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 Genetic variations in HBB are involved in resistance to malaria [MIM:611162]. Hemoglobin S (Hb S), which at homozygosity is responsible for sickle cell anemia, is not associated with any clinical abnormality when heterozygous. At heterozygosity, Hb S confers an increase in protection from life-threatening malaria. Additional variants conferring resistance against severe malaria are hemoglobin C (Hb C) and hemoglobin E (Hb E). Additional information on the polymorphism described.
Variant description: help In Hinwil; O(2) affinity up. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 39 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 VNVDEVGGEALGRLLVVYPW T QRFFESFGDLSTPDAVMGNP 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
Peptide 33 – 42 LVV-hemorphin-7
Peptide 33 – 39 Spinorphin
Site 38 – 39 (Microbial infection) Cleavage; by N.americanus apr-2
Modified residue 45 – 45 Phosphoserine
Modified residue 51 – 51 Phosphothreonine
Helix 37 – 42



Literature citations
HB Hinwil or beta 38(C4)Thr-->Asn: a new beta chain variant detected in a Swiss family.
Frischknecht H.; Ventruto M.; Hess D.; Hunziker P.; Rosatelli M.C.; Cao A.; Breitenstein U.; Fehr J.; Tuchschmid P.;
Hemoglobin 20:31-40(1996)
Cited for: VARIANT HINWIL ASN-39;
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.