IthaID: 8


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: -88 (C>T) HGVS Name: HBB:c.-138C>T
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
TTAGACCTCACCCTGTGGAGCCACA [A/C/G/T] CCTAGGGTTGGCCAATCTACTCCCA (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: 70457
Size: 1 bp
Located at: β
Specific Location: Promoter

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Promoter (Transcription)
Ethnic Origin: African-American, Asian Indians, Pakistani
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Frequencies

Publications / Origin

  1. Orkin SH, Antonarakis SE, Kazazian HH, Base substitution at position -88 in a beta-thalassemic globin gene. Further evidence for the role of distal promoter element ACACCC., The Journal of biological chemistry, 259(14), 8679-81, 1984
  2. Thein SL, Hesketh C, Wallace RB, Weatherall DJ, The molecular basis of thalassaemia major and thalassaemia intermedia in Asian Indians: application to prenatal diagnosis., British journal of haematology, 70(2), 225-31, 1988
  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
Created on 2010-06-16 16:13:14, Last reviewed on 2016-09-02 14:07:42 (Show full history)

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