IthaID: 2461



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 42 TTT>ATT [Phe>Ile] HGVS Name: HBB:c.127T>A
Hb Name: Hb Oslo Protein Info: β 42(CD1) Phe>Ile

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFIESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Comments: Unstable Hb variant found as a heterozygote in a female patient with a history of hemolytic anaemia and low oxygen saturation. The oxygen affinity of the variant was not measured. It is located in the heme pocket of the β-globin chain.

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70851
Size: 1 bp
Located at: β
Specific Location: Exon 2

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-chain variant
Allele Phenotype:N/A
Stability: Hyperunstable
Oxygen Affinity: N/A
Associated Phenotypes: Haemolytic anaemia [HP:0001878]

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Norwegian
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Grimholt RM, Vestli A, Urdal P, Bechensteen AG, Fjeld B, Dalhus B, Klingenberg O, Hb Oslo [β42(CD1)Phe→Ile; HBB: c.127T>A]: A Novel Unstable Hemoglobin Variant Found in a Norwegian Patient., Hemoglobin , 2018 PubMed
Created on 2014-06-03 14:40:58, Last reviewed on 2019-03-26 16:52:54 (Show full history)

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