IthaID: 2424

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 99 AAG>AGG [Lys>Arg] HGVS Name: HBA2:c.299A>G
Hb Name: Hb Papanui Protein Info: α2 99(G6) Lys>Arg

External Links


Chromosome: 16
Locus: NG_000006.1
Locus Location: 34191
Size: 1 bp
Located at: α2
Specific Location: Exon 2


Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-chain variant
Allele Phenotype:N/A
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: N/A

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: New Zealand
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Brennan SO, Chan T, Hb Papanui [α99(G8)Lys→Arg; HBA2: c.299A>G]: a novel silent substitution interfering in Hb A1c determination., Hemoglobin , 37(6), 589-92, 2013 PubMed
Created on 2014-05-29 16:22:15, Last reviewed on (Show full history)

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