IthaID: 2208



Names and Sequences

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

Context nucleotide sequence:
AGGTCGGCGCGCACGCTGGCGAGTA [G/T] GGTGCGGAGGCCCTGGAGAGGTGAG (Strand: +)

External 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: Haemolytic anaemia [HP:0001878]

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Nonsense codon (Translation)
Ethnic Origin: Dutch
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Giordano PC, Cnossen MH, Joosten AM, Jansen CA, Hakvoort TE, Bakker-Verweij M, Arkesteijn SG, van Delft P, Waye JS, Bouva MJ, Harteveld CL, Codon 24 (TAT>TAG) and codon 32 (ATG>AGG) (Hb Rotterdam): two novel alpha2 gene mutations associated with mild alpha-thalassemia found in the same family after newborn screening., Hemoglobin , 34(4), 354-65, 2010 PubMed
Created on 2013-10-02 10:37:38, Last reviewed on 2014-04-09 10:22:53 (Show full history)

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