IthaID: 2965


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 89-90 (-TGAG) HGVS Name: HBB:c.270_273delTGAG
Hb Name: Hb Wilde Protein Info: β 89 - 90 (-TGAG); modified C-terminal sequence

Also known as:

Comments: Appears as de novo mutation, in heterozygote state, with severe thalassaemia-like features. Patient presented extramedullary haematopoiesis at the age of 5 and thus requires regular blood transfusions. 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.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70994
Size: 4 bp
Located at: β
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: Argentinean 
Molecular mechanism: N/A
Inheritance: Dominant
DNA Sequence Determined: Yes

In silico pathogenicity prediction

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
Created on 2016-08-23 14:44:01, Last reviewed on (Show full history)

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