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 |
Context nucleotide sequence:
CCTACCTCTTCTCCGCAGCTCTTGG [G>A] CAATGTGCTGGTGTGTGTGCTG (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLRNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
Also known as:
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.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
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
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
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)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2013-10-01 17:20:22 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2019-09-27 12:29:21 | The IthaGenes Curation Team | Reviewed. DNA info, Protein info, Origin and Reference added. Haemoglobinopahy/Allele phenotype info corrected. |
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IthaGenes was last updated on 2024-11-20 13:24:07