IthaID: 2469



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 7 AAG>TAG HGVS Name: HBA2:c.22A>T
Hb Name: N/A Protein Info: α2 7(A5) Lys>Stop

External Links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 33797
Size: 1 bp
Located at: α2
Specific Location: Exon 1

Phenotype

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

Other details

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

Sequence Viewer

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Publications / Origin

  1. Bayat N, Farashi S, Hafezi-Nejad N, Faramarzi N, Ashki M, Vakili S, Imanian H, Khosravi M, Azar-Keivan A, Najmabadi H, Novel mutations responsible for α-thalassemia in Iranian families., Hemoglobin , 37(2), 148-59, 2013 PubMed
Created on 2014-06-03 16:25:55, Last reviewed on (Show full history)

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