IthaID: 89


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 26 (GAG>TAG) HGVS Name: HBB:c.79G>T
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
GGTGAACGTGGATGAAGTTGGTGGT [A/C/G/T] AGGCCCTGGGCAGGTTGGTATCAAG (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGX

Also known as:

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: 70673
Size: 1 bp
Located at: β
Specific Location: Exon 1

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Nonsense codon (Translation)
Ethnic Origin: Thai
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Frequencies

Publications / Origin

  1. Fucharoen G, Fucharoen S, Jetsrisuparb A, Fukumaki Y, Molecular basis of HbE-beta-thalassemia and the origin of HbE in northeast Thailand: identification of one novel mutation using amplified DNA from buffy coat specimens., Biochemical and biophysical research communications, 170(2), 698-704, 1990
Created on 2010-06-16 16:13:14, Last reviewed on 2024-03-07 11:00:56 (Show full history)

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