IthaID: 3583
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 106 CTG>CGG [Leu>Arg] | HGVS Name: | HBA2:c.320T>G |
| Hb Name: | Hb Beckett | Protein Info: | N/A |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
CTCCTAAGCCACTGCCTGC [T>G] GGTGACCCTGGCCGCCCACC (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLRVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Comments: Red cell indices were microcytic and hypochromic. Previously reported mutations close to this region were reported to have a thalassaemic phenotype. Two small peaks were detected (<1%) after the HbA2 in BioRad Variant II (Dual Program).
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | α-chain variant |
| Allele Phenotype: | N/A |
| Stability: | Unstable |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 34354 |
| Size: | 1 bp |
| Located at: | α2 |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | N/A |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
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To the best of our knowledge, this is unpublished data.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 | Daniel, Yvonne | 2020-04-22 | First report. |
| 2 | Monteiro, Daniel | 2020-04-22 | First report. |
Created on 2020-04-24 12:53:47,
Last reviewed on 2020-04-27 22:41:49 (Show full history)
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