IthaID: 276

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: Poly A (A>G) AATAAA>AATAAG HGVS Name: HBB:c.*113A>G
Hb Name: N/A Protein Info: β nt 1587 A>G

Context nucleotide sequence:

Also known as:


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


Chromosome: 11
Locus: NG_000007.3
Locus Location: 72131
Size: 1 bp
Located at: β
Specific Location: 3'UTR, Poly(A)

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: RNA cleavage - Poly(A) signal (mRNA Processing)
Ethnic Origin: Kurdish
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Rund D, Filon D, Dowling C, Kazazian HH, Rachmilewitz EA, Oppenheim A, Molecular studies of beta-thalassemia in Israel. Mutational analysis and expression studies., Ann. N. Y. Acad. Sci. , 612(0), 98-105, 1990 PubMed
  2. Rund D, Cohen T, Filon D, Dowling CE, Warren TC, Barak I, Rachmilewitz E, Kazazian HH, Oppenheim A, Evolution of a genetic disease in an ethnic isolate: beta-thalassemia in the Jews of Kurdistan., Proceedings of the National Academy of Sciences of the United States of America, 88(1), 310-4, 1991 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2023-01-10 09:33:21 (Show full history)

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