IthaID: 2437
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 29 GGC>GAC [Gly>Asp] | HGVS Name: | HBD:c.89G>A |
| Hb Name: | Hb A2-Hong Kong | Protein Info: | δ 29(B11) Gly>Asp |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Protein sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALDRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH
Comments: The mutation is identical to that of Hb Lufkin (ithaID: 905) in the β chain.
External Links
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | δ-chain variant |
| Allele Phenotype: | N/A |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 63271 |
| Size: | 1 bp |
| Located at: | δ |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Chinese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- So CC, Chan AY, Luo HY, Verhovsek M, Chui DH, Ling SC, Chan LC, Hb A2 Hong Kong - A novel δ-globin variant in a Chinese family masks the diagnosis of β-thalassemia trait., Hemoglobin , 35(2), 162-5, 2011
Created on 2014-05-30 20:28:34,
Last reviewed on 2018-02-15 18:48:03 (Show full history)
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