IthaID: 3496
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 10 GCT>GTT [Ala>Val] | HGVS Name: | HBD:c.32C>T |
| Hb Name: | Hb A2-Canakkale | Protein Info: | δ 10(A7) Ala>Val |
Context nucleotide sequence:
CATCTGACTCCTGAGGAGAAGACTG [C>T] TGTCAATGCCCTGTGGGGCAAAG (Strand: -)
Protein sequence:
MVHLTPEEKTVVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH
Also known as:
Comments: The variant is presumed to be stable just like its β chain counterpart, Hb Iraq-Halabja [IthaID: 841].
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: | 63214 |
| Size: | 1 bp |
| Located at: | δ |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Turkish |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Karakaya T, Silan F, Ozdemir O, A New Mutation, Hb A-Canakkale [δ10(A7)Ala→Val; : c.32C>T], and Other Well-Known δ Variants Identified in a Selected Cohort with Low Hb A Levels., Hemoglobin, 2022
Created on 2019-11-22 09:08:06,
Last reviewed on 2022-08-09 09:44:31 (Show full history)
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