IthaID: 2488



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 24 TAT>TAA HGVS Name: HBA2:c.75T>A
Hb Name: N/A Protein Info: α2 24(B5) Tyr>Stop

External Links

No available links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 33850
Size: 1 bp
Located at: α2
Specific Location: Exon 1

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: α-thalassaemia
Allele Phenotype:α⁺
Associated Phenotypes: N/A

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Nonsense codon (Translation)
Ethnic Origin: Sundanese
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Megawati D, Nainggolan IM, Swastika M, Susanah S, Mose JC, Harahap AR, Setianingsih I, Severe α-thalassemia intermedia due to a compound heterozygosity for the highly unstable Hb Adana (HBA2: c.179G>A) and a novel codon 24 (HBA2: c.75T>A) mutation., Hemoglobin , 38(2), 149-51, 2014 PubMed
Created on 2014-06-04 16:33:14, Last reviewed on (Show full history)

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