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 |
| Also known as: | Hb A2-India |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Protein sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLALNFGKEFTPQMQAAYQKVVAGVANALAHKYH
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.
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
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
Created on 2018-02-15 16:55:04,
Last reviewed on 2018-02-15 16:58:59 (Show full history)
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