IthaID: 3318
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 116 CGC>CTC [Arg>Leu] | HGVS Name: | HBD:c.350G>T |
| Hb Name: | Hb A2-Lepore | Protein Info: | δ 116(G18) Arg>Leu |
Protein sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLALNFGKEFTPQMQAAYQKVVAGVANALAHKYH
Also known as: Hb A2-India
Comments: This new delta-globin variant was linked in cis with a beta(0)-thalassaemia mutation (CD 15 TGG>TAG). It was originally confused with Hb Lepore since it migrates in the same CE-CLHP window.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
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: | 64558 |
| 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: | East Indian |
| 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
- Waye JS, Patterson M, Walker L, Eng B, Nakamura LM, Lafferty JD, Yong SL, Wu JK, Chui DH, Yong SL, Beta-thalassemia in association with a new delta-chain hemoglobin variant [delta116(g18)Arg-->Leu]: implications for carrier screening and prenatal diagnosis., Am. J. Hematol. , 74(3), 179-81, 2003 PubMed
Created on 2018-02-15 16:55:04,
Last reviewed on 2018-02-15 16:58:59 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2018-02-15 16:55:04 | The IthaGenes Curation Team | Created |
| 2 | 2018-02-15 16:58:59 | The IthaGenes Curation Team | Reviewed. Mutation comment and synonym name added. |
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IthaGenes was last updated on 2024-11-20 13:24:07