IthaID: 3253

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 88 CTG>--G HGVS Name: HBB:c.265_266del
Hb Name: N/A Protein Info: N/A

Also known as: HBB:c.265_266delCT

Comments: Patient presented with α microcytic hypochromic phenotype. The mutation generates a stop codon two amino acids further (p.Leu89Glufs*2).

External Links


Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: β-thalassaemia
Allele Phenotype:β0
Associated Phenotypes: N/A


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70989
Size: 2 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: Senegalese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Gueye Tall F, Martin C, Malick Ndour EH, Déme Ly I, Renoux C, Chillotti L, Veyrenche N, Connes P, Madieye Gueye P, Ndiaye Diallo R, Lacan P, Diagne I, Amadou Diop P, Cissé A, Lopez Sall P, Joly P, Genetic Background of the Sickle Cell Disease Pediatric Population of Dakar, Senegal, and Characterization of a Novel Frameshift β-Thalassemia Mutation [HBB: c.265_266del; p.Leu89Glufs*2]., Hemoglobin , 41(2), 89-95, 2017 PubMed
Created on 2017-08-22 12:06:55, Last reviewed on 2018-02-27 18:04:27 (Show full history)

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