IthaID: 274


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: Poly A (A>G) AATAAA>AATGAA HGVS Name: HBB:c.*111A>G
Hb Name: N/A Protein Info: β nt 1585 A>G

Context nucleotide sequence:
CTTGAGCATCTGGATTCTGCCTAAT [A/G] AAAAACATTTATTTTCATTGCAATG (Strand: -)

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

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: 72129
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: Mediterranean
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Frequencies

Publications / Origin

  1. Jankovic L, Efremov GD, Petkov G, Kattamis C, George E, Yang KG, Stoming TA, Huisman TH, Two novel polyadenylation mutations leading to beta(+)-thalassemia., British journal of haematology, 75(1), 122-6, 1990
Created on 2010-06-16 16:13:15, Last reviewed on 2023-01-10 09:31:34 (Show full history)

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