IthaID: 3253



Names and Sequences

Functionality: Globin gene causative mutation
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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70989
Size: 2 bp
Located at: β
Specific Location: Exon 2

Phenotype

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

Other details

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

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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