IthaID: 185


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
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.

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70975
Size: 1 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: Azerbaijanian, Czech, Croatian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

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
  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
  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
  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
Created on 2010-06-16 16:13:15, Last reviewed on 2019-11-08 14:51:47 (Show full history)

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