IthaID: 185



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 82/83 (-G) HGVS Name: HBB:c.251delG
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
CCTGGCTCACCTGGACAACCTCAAGG [-/G] CACCTTTGCCACACTGAGTGAGCT (Strand: -)

Also known as:

Comments: Found in an Azerbaijanian patient with β0-thalassaemia [PMID: 2525253]. Found in three different alleles of unrelated patients with β-thalassaemia major from Azerbaijan [PMID: 1483699]. Found in seven members of two families of Czech decent [PMID: 1740317]. Found in a Yugoslavian family of Croatian nationality with a heterozygosity for β-thalassaemia [PMID: 1517107]. The deletion of a nt G in codons 82/83 changes the reading frame with a stop codon at codon 88 resulting in a premature termination of translation.

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70975
Size: 1 bp
Located at: β
Specific Location: Exon 2

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: β-thalassaemia
Allele Phenotype:β0
Associated Phenotypes: Haemolytic anaemia [HP:0001878]
Ineffective erythropoiesis [HP:0010972]

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: Azerbaijanian, Czech, Croatian
Inheritance: Recessive
DNA Sequence Determined: No

Sequence Viewer

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Frequencies

Publications / Origin

  1. Schwartz EI, Gol'tsov AA, Kaboev OK, Alexeev AA, Solovyev GYa , Surin VL, Lukianenko AV, Vinogradov SV, Berlin YuA , A novel frameshift mutation causing beta-thalassaemia in Azerbaijan., Nucleic acids research, 17(10), 3997, 1989 PubMed
  2. Indrak K, Brabec V, Indrakova J, Chrobak L, Sakalova A, Jarosova M, Cermak J, Fei YJ, Kutlar F, Gu YC, Molecular characterization of beta-thalassemia in Czechoslovakia., Human genetics, 88(4), 399-404, 1992 PubMed
  3. Cürük MA, Yüregir GT, Asadov CD, Dadasova T, Gu LH, Baysal E, Gu YC, Ribeiro ML, Huisman TH, Molecular characterization of beta-thalassemia in Azerbaijan., Human genetics, 90(4), 417-9, 1992 PubMed
  4. Jankovic L, Dimovski AJ, Efremov GD, Juricic D, A mutation of CDS 82/83 (-G) observed in a Yugoslavian family with a heterozygosity for beta-thalassemia., Hemoglobin, 16(4), 291-4, 1992 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2019-11-08 14:51:47 (Show full history)

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