IthaID: 3003
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 100 CCT>TCT [Pro>Ser] | HGVS Name: | HBD:c.301C>T |
| Hb Name: | Hb A2-Saurashtra | Protein Info: | δ 100(G2) Pro>Ser |
Protein sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDSENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH
Also known as:
Comments: The Hb A2-Saurashtra variant was in cis of a beta-thal mutation. The probands were homozygous for this chromosome and presented a thalassemia major state.
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: | 63611 |
| Size: | 1 bp |
| Located at: | δ |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Indian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Colaco S, Trivedi A, Colah RB, Ghosh K, Nadkarni AH, Masking of a β-Thalassemia Determinant by a Novel δ-Globin Gene Defect [Hb A2-Saurashtra or δ100(G2)Pro→Ser; HBD: c.301CT] in Cis., Hemoglobin , 1(1), 1-4, 2013
Created on 2016-08-24 10:32:47,
Last reviewed on 2016-08-24 10:45:33 (Show full history)
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