IthaID: 3223
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CAP +48 (A>T) | HGVS Name: | HBD:c.-6A>T |
| Hb Name: | N/A | Protein Info: | N/A |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Comments: The variant is located in the 5’ UTR at +48 position. It was found in a patient, who is also carrier for the IVS I-5 (G>C) mutation, with borderline HbA2 (3.7%). Normally, IVS I-5 (G>C) carriers have elevated HbA2. This variation is located at the most conserve region of the Kozak sequence (-3 to the start codon). No abnormal peak was observed on HPLC as opposed to low percentage S-window peak on most HBD variants.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | δ-thalassaemia |
| Allele Phenotype: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 63019 |
| Size: | 1 bp |
| Located at: | δ |
| Specific Location: | 5'UTR |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Malaysian Malay |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
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To the best of our knowledge, this is unpublished data.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 | Syahzuwan, Hassan | 2017-07-05 | First report. |
Created on 2017-07-10 14:36:09,
Last reviewed on 2017-07-10 14:38:19 (Show full history)
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