IthaID: 53

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 2/3 (+T); CD 5 (-C) HGVS Name: HBB:c.[9dupT; 17delC]
Hb Name: Hb Antalya Protein Info: β 2 - 5 His-Leu-Thr-Pro replaced with His-Ser-Asp-Ser

Context nucleotide sequence:

Also known as:

Comments: Found in a proband with beta-thalassaemia trait. The amino acid residues Leu-Thr-Pro (codons 3-5) of the normal allele in the β-globin gene are changed to Ser-Asp-Ser, respectively, by insertion of a nt T between codon 2 and codon 3 (CAT [+T] CTG) and deletion of a nt C at codon 5 (CCT>C-T).

We follow the HGVS sequence variant nomenclature and IUPAC standards.


Hemoglobinopathy Group: Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-thalassaemia, β-chain variant
Allele Phenotype:β+
Stability: Hyperunstable
Oxygen Affinity: N/A
Associated Phenotypes: Haemolytic anaemia [HP:0001878]
Ineffective erythropoiesis [HP:0010972]


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70603 or 70611
Size: 1 bp or 1 bp
Located at: β
Specific Location: Exon 1

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: Insertion/Deletion of codons (Protein Structure)
Ethnic Origin: Turkish
Molecular mechanism: N/A
Inheritance: Dominant
DNA Sequence Determined: No

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Keser I, Kayisli OG, Yesilipek A, Ozes ON, Luleci G, Hb Antalya [codons 3-5 (Leu-Thr-Pro-->Ser-Asp-Ser)]: a new unstable variant leading to chronic microcytic anemia and high Hb A2., Hemoglobin, 25(4), 369-73, 2001 PubMed
Created on 2010-06-16 16:13:14, Last reviewed on 2019-11-13 16:34:51 (Show full history)

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