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
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To the best of our knowledge, this is unpublished data.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)
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