IthaID: 200



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: IVS II-1 G>A HGVS Name: HBB:c.315+1G>A
Hb Name: N/A Protein Info: β nt 496 G>T

Context nucleotide sequence:
GCACGTGGATCCTGAGAACTTCAGG [A/C/G/T] TGAGTCTATGGGACGCTTGATGTTT (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:β0
Associated Phenotypes: Haemolytic anaemia [HP:0001878]
Ineffective erythropoiesis [HP:0010972]

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71040
Size: 1 bp
Located at: β
Specific Location: Intron 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Splice junction (mRNA Processing)
Ethnic Origin: Mediterranean, African-American, Pakistani
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Frequencies

Publications / Origin

  1. Baird M, Driscoll C, Schreiner H, Sciarratta GV, Sansone G, Niazi G, Ramirez F, Bank A, A nucleotide change at a splice junction in the human beta-globin gene is associated with beta 0-thalassemia., Proceedings of the National Academy of Sciences of the United States of America, 78(7), 4218-21, 1981 PubMed
  2. Treisman R, Proudfoot NJ, Shander M, Maniatis T, A single-base change at a splice site in a beta 0-thalassemic gene causes abnormal RNA splicing., Cell, 29(3), 903-11, 1982 PubMed
  3. Yasmeen H, Toma S, Killeen N, Hasnain S, Foroni L, The molecular characterization of Beta globin gene in thalassemia patients reveals rare and a novel mutations in Pakistani population., Eur J Med Genet , 59(8), 355-62, 2016 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2016-09-02 14:10:18 (Show full history)

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