IthaID: 2574
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 117 AAC>ACC [Asn>Thr] | HGVS Name: | HBD:c.353A>C |
| Hb Name: | Hb A2-Amsterdam | Protein Info: | δ 117(G19) Asn>Thr |
Context nucleotide sequence:
TGTGCTGGTGTGTGTGCTGGCCCGCA [A/C] CTTTGGCAAGGAATTCACCCCACA (Strand: -)
Also known as:
Comments: Found in female of Turkish origin in combination with a β0-thalassaemia defect. Usually the Hb A2 is 4.2-5.6% in heterozygotes IVS-II-1 (G>A), however Hb A2 relatively low (3.2%), so looks like δ-thalassemia effect with slightly reduced δ-expression.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia and Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | δ-thalassaemia, δ-chain variant |
| Allele Phenotype: | δ+ |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 64561 |
| 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: | Turkish |
| 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
To the best of our knowledge, this is unpublished data. Please use with caution!
Microattributions
| A/A | Contributor(s) | Date | Comments |
|---|---|---|---|
| 1 | L. Harteveld, Cornelis | 2016-03-02 | First report. |
Created on 2016-05-06 14:06:12,
Last reviewed on (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2016-05-06 14:06:12 | The IthaGenes Curation Team | Created |
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IthaGenes was last updated on 2024-11-20 13:24:07