IthaID: 3806
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 44-48 (-CTTTGGGGATC) | HGVS Name: | HBD:c.135_145del |
| Hb Name: | N/A | Protein Info: | N/A |
Context nucleotide sequence:
GACCCAGAGGTTCTTTGAGTC [CTTTGGGGATC/-] TGTCCTCTCCTGATGCTGTTA (Strand: -)
Protein sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESVLSX
Also known as: p.Phe46Valfs*4
Comments: Found in association with the IVS I-110 G>A [IthaID:113] in a 38-year-old case presented with mild anaemia. The combination of HBB and HBD variants causes a “false normal” HbA2 level. The 11bp deletion, causes a frameshift that introduces a premature stop codon four amino acids further down the new reading frame.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | δ-thalassaemia |
| Allele Phenotype: | δ0 |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 63445 |
| Size: | 11 bp |
| Located at: | δ |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Deletion) |
|---|---|
| Effect on Gene/Protein Function: | Frameshift (Translation) |
| Ethnic Origin: | Greek |
| 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To the best of our knowledge, this is unpublished data.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 | Saller, Elisabeth | 2021-06-30 | First report. |
Created on 2021-07-01 08:47:45,
Last reviewed on 2022-09-22 12:43:31 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2021-07-01 08:47:45 | The IthaGenes Curation Team | Created |
| 2 | 2021-07-01 08:49:37 | The IthaGenes Curation Team | Reviewed. Size added. |
| 3 | 2021-07-02 12:31:16 | The IthaGenes Curation Team | Reviewed. Allele phenotype added. |
| 4 | 2021-07-06 11:11:24 | The IthaGenes Curation Team | Reviewed. Comment corrected |
| 5 | 2021-07-09 11:32:46 | The IthaGenes Curation Team | Reviewed. Synonym added. |
| 6 | 2021-08-23 13:09:08 | The IthaGenes Curation Team | Reviewed. Link added. |
| 7 | 2022-09-22 12:43:31 | The IthaGenes Curation Team | Reviewed. Comment edit. |
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IthaGenes was last updated on 2024-11-20 13:24:07