IthaID: 272



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: Poly A (T>C) AATAAA>AACAAA HGVS Name: HBB:c.*110T>C
Hb Name: N/A Protein Info: β nt 1584 T>C

Context nucleotide sequence:
CCTTGAGCATCTGGATTCTGCCTAA [A/C/T] AAAAAACATTTATTTTCATTGCAAT (Strand: -)

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 72128
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: African-American, Turkish
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Sequence Viewer

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Frequencies

Publications / Origin

  1. Orkin SH, Cheng TC, Antonarakis SE, Kazazian HH, Thalassemia due to a mutation in the cleavage-polyadenylation signal of the human beta-globin gene., The EMBO journal, 4(2), 453-6, 1985 PubMed
  2. Altay C, Gurgey A, Oner R, Kutlar A, Kutlar F, Huisman TH, A mild thalassemia major resulting from a compound heterozygosity for the IVS-II-1 (G----A) mutation and the rare T----C mutation at the polyadenylation site., Hemoglobin , 15(4), 327-30, 1991 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2014-04-08 16:01:01 (Show full history)

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