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
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
- 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
Created on 2013-10-01 17:20:22,
Last reviewed on 2019-09-27 12:29:21 (Show full history)
Disclaimer: The information on this website is provided as an information resource only
and must not to be used as a substitute for professional diagnosis and treatment.
The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment,
diagnosis or any other information, services or products that an individual obtains through this website.