IthaID: 1248

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 130 TAT>GAT HGVS Name: HBB:c.391T>G
Hb Name: Hb Wien Protein Info: β 130(H8) Tyr>Asp

Context nucleotide sequence:

Protein sequence:

Also known as:

Comments: Position β130 (H8) is located at an internal site in the haemoglobin molecule at the base of the haem pocket. The Tyr>Asp substitution introduces a charged residue into the interior of the molecule where normally only uncharged residues can be accommodated, thus leading to instability. Associated with hemolytic anemia.


Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-chain variant
Allele Phenotype:N/A
Stability: Unstable
Oxygen Affinity: N/A
Associated Phenotypes: N/A


Chromosome: 11
Locus: NG_000007.3
Locus Location: 71965
Size: 1 bp
Located at: β
Specific Location: Exon 3

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Australian, German
Molecular mechanism: N/A
Inheritance: Dominant
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Kleihauer E, Betke K, [Properties of the unstable Hb Wien], Klinische Wochenschrift, 50(19), 907-9, 1972 PubMed
  2. Lorkin PA, Pietschmann H, Braunsteiner H, Lehmann H, Structure of haemoglobin Wien beta 130 (H8) tyrosine-aspartic acid: an unstable haemoglobin variant., Acta Haematol, 51(6), 351-61, 1974 PubMed
  3. Hilbert S, Voill-Glaninger A, Höller B, Minkov M, Hemolytic anemia due to the unstable hemoglobin Wien: manifestations and long-term course in the largest pedigree identified to date., Haematologica, 105(5), e253-e255, 2020 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2023-03-21 11:16:02 (Show full history)

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