IthaID: 2966



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 98/99 (+TG) HGVS Name: HBB:c.296_297dup
Hb Name: Hb Patagonia Protein Info: β 99(+TG); modified C-terminal sequence

Comments: Appears as de novo mutation, in heterozygote state, with severe thalassaemia-like features. Patient presented with haemolytic anaemia requiring multiple blood transfusions, followed by splenectomy. Predicted to cause frameshift resulting in an elongated β-globin and a modified C-terminal sequence. Structural characterization suggested alteration of the tertiary structure, as well as of the majority of the positions involved in αβ dimer formation.

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71021
Size: 2 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: N/A

Other details

Type of Mutation: Point-Mutation(Insertion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: Argentinean
Inheritance: Dominant
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Scheps KG, Hasenahuer MA, Parisi G, Fornasari MS, Pennesi SP, Erramouspe B, Basack FN, Veber ES, Aversa L, Elena G, Varela V, Hb Wilde and Hb Patagonia: two novel elongated beta-globin variants causing dominant beta-thalassemia., Eur. J. Haematol. , 94(6), 498-503, 2015 PubMed
Created on 2016-08-23 14:53:33, Last reviewed on (Show full history)

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