IthaID: 3317
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 47 GAT>AAT [Asp>Asn] | HGVS Name: | HBD:c.142G>A |
| Hb Name: | Hb A2-Lampang | Protein Info: | δ 47(CD6) Asp>Asn |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Protein sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGNLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH
Comments: The replacement of Asn for Asp at this position in the Hb A2-Lampang has no deleterious effect and can be considered as a clinically and hematologically silent variant.
External Links
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | δ-chain variant |
| Allele Phenotype: | Silent Hb |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 63452 |
| Size: | 1 bp |
| Located at: | δ |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Thai |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Panyasai S, Fucharoen G, Fucharoen S, Known and new hemoglobin A2 variants in Thailand and implication for β-thalassemia screening., Clin. Chim. Acta , 438(0), 226-30, 2015
Created on 2018-02-14 19:53:10,
Last reviewed on (Show full history)
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