IthaID: 365



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 31 AGG>--G HGVS Name: HBA1:c.92_93delAG
Hb Name: N/A Protein Info: N/A

External Links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 37673
Size: 2 bp
Located at: α1
Specific Location: Exon 1

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: α-thalassaemia
Allele Phenotype:α0
Associated Phenotypes: Haemolytic anaemia [HP:0001878]

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: African
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Safaya S, Rieder RF, Dysfunctional alpha-globin gene in hemoglobin H disease in blacks. A dinucleotide deletion produces a frameshift and a termination codon., The Journal of biological chemistry, 263(9), 4328-32, 1988 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2014-10-20 10:02:20 (Show full history)

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