IthaID: 2201
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 107 G>A [Gly>Asp] | HGVS Name: | HBD:c.323G>A |
| Hb Name: | Hb A2-Tianhe | Protein Info: | δ 107 Gly>Asp |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
CCTACCTCTTCTCCGCAGCTCTTGG [G>A] CAATGTGCTGGTGTGTGTGCTG (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLRNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
Comments: Detected in an Indian family with heterozygous β0-thal (HBB:c.92+5G>C) with normal Hb A2 levels. Detected in a Chinese proband with heterozygous β0-thal (HBB:c.126_129delCTTT) with a normal Hb A2 level.
External Links
No available 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: | 64531 |
| Size: | 1 bp |
| Located at: | δ |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Indian, Chinese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Sequence Viewer
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Publications / Origin
- Jain S, Edison ES, Mathews V, Shaji RV, A novel δ-globin gene mutation (HBD: c.323G>A) masking the diagnosis of β-thalassemia: a first report from India., Int. J. Hematol. , 95(5), 570-2, 2012 PubMed
- Chen GL, Huang LY, Zhou JY, Li DZ, Hb A-Tianhe (HBD: c.323G>A): First Report in a Chinese Family with Normal Hb A-β-Thalassemia Trait., Hemoglobin, 41(0), 291-292, 2017 PubMed
Created on 2013-10-01 17:20:22,
Last reviewed on 2019-09-27 12:29:21 (Show full history)
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