IthaID: 189


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 88 (+T) HGVS Name: HBB:c.266dupT
Hb Name: N/A Protein Info: β 88(+T); modified C-terminal sequence: (88)Leu-(89)Glu-COOH

Context nucleotide sequence:
ACCTCAAGGGCACCTTTGCCACACT [-/T] GAGTGAGCTGCACTGTGACAAGCTG (Strand: -)

Also known as:

Comments: Found in a heterozygous state in one person of Asian Indian origin. The insertion of a nt T in codon 88 creates a shift in the reading frame with a premature stop codon at codon 90 (TGA).

We follow the HGVS sequence variant nomenclature and IUPAC standards.

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: 70990
Size: 1 bp
Located at: β
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Insertion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: Asian Indian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Frequencies

Publications / Origin

  1. Varawalla NY, Old JM, Weatherall DJ, Rare beta-thalassaemia mutations in Asian indians., British journal of haematology, 79(4), 640-4, 1991
Created on 2010-06-16 16:13:15, Last reviewed on 2019-11-13 14:04:55 (Show full history)

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