IthaID: 61



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 8 (-AA) HGVS Name: HBB:c.25_26delAA
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
CATGGTGCATCTGACTCCTGAGGAG [-/AA] GTCTGCCGTTACTGCCCTGTGGGGC (Strand: -)

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70619
Size: 1 bp
Located at: β
Specific Location: Exon 1

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: Mediterranean
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: MLPA

Sequence Viewer

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Frequencies

Publications / Origin

  1. Orkin SH, Goff SC, Nathan DG, Heterogeneity of DNA deletion in gamma delta beta-thalassemia., The Journal of clinical investigation, 67(3), 878-84, 1981 PubMed
  2. Filon D, Faerman M, Smith P, Oppenheim A, Sequence analysis reveals a beta-thalassaemia mutation in the DNA of skeletal remains from the archaeological site of Akhziv, Israel., Nature genetics, 9(4), 365-8, 1995 PubMed
Created on 2010-06-16 16:13:14, Last reviewed on 2013-10-15 17:28:32 (Show full history)

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