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:
ATTCACCCCACCAGTGCAGGCTGCC [G/T] ATCAGAAAGTGGTGGCTGGTGTGGC (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAADQKVVAGVANALAHKYH

Also known as:

Location

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

Phenotype

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

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

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. 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 2020-07-02 09:28:03 (Show full history)

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