IthaID: 2325
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 7 GAG>GAC [Glu>Asp] | HGVS Name: | HBD:c.24G>C |
| Hb Name: | Hb A2-Pordenone | Protein Info: | δ 7(A4) Glu>Asp |
Context nucleotide sequence:
CCATGGTGCATCTGACTCCTGAGGA [G>C] AAGACTGCTGTCAATGCCCTGTGGG (Strand: -)
Protein sequence:
MVHLTPEDKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
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: | 63206 |
| 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: | Friulan |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Mahmud N, Maffei M, Mogni M, Forni GL, Pinto VM, Barberio G, Ungari S, Maffè A, Curcio C, Zanolli F, Paventa R, Carta M, Caleffi A, Mercadanti M, Maoggi S, Ivaldi G, Coviello D, Hemoglobin A and Heterogeneous Diagnostic Relevance Observed in Eight New Variants of the Delta Globin Gene., Genes (Basel), 12(11), 0, 2021
Created on 2014-01-15 17:36:04,
Last reviewed on 2023-03-13 16:21:00 (Show full history)
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