IthaID: 2424
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| 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 |
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | α-chain variant |
| Allele Phenotype: | N/A |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 34191 |
| Size: | 1 bp |
| Located at: | α2 |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | New Zealand |
| Molecular mechanism: | Altered α1β1 interface |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- 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
Created on 2014-05-29 16:22:15,
Last reviewed on (Show full history)
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