IthaID: 2467

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 99 AAG>TAG HGVS Name: HBA1:c.298A>T
Hb Name: N/A Protein Info: α1 99(G6) Lys>Stop

Also known as:

External Links


Chromosome: 16
Locus: NG_000006.1
Locus Location: 37994
Size: 1 bp
Located at: α1
Specific Location: Exon 2


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

Sequence Viewer

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Publications / Origin

  1. Zandian K, Nateghi J, Keikhaie B, Pedram M, Hafezi-Nejad N, Hadavi V, Oberkanins C, Azarkeivan A, Law HY, Najmabadi H, alpha-thalassemia mutations in Khuzestan Province, Southwest Iran., Hemoglobin , 32(6), 546-52, 2008 PubMed
  2. Hadavi V, Jafroodi M, Hafezi-Nejad N, Moghadam SD, Eskandari F, Tarashohi S, Pourfahim H, Oberkanins C, Law HY, Najmabadi H, Alpha-thalassemia mutations in Gilan Province, North Iran., Hemoglobin , 33(3), 235-41, 2009 PubMed
  3. 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 16:15:46, Last reviewed on (Show full history)

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