IthaID: 3384
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 110 CTG>CGG [Leu>Arg] | HGVS Name: | HBB:c.332T>G |
| Hb Name: | Hb London-Ontario | Protein Info: | β 110(G12) Leu>Arg |
Context nucleotide sequence:
CTCCCACAGCTCCTGGGCAACGTGC [T>G] GGTCTGTGTGCTGGCCCATCACTTT (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVRVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
Also known as:
Comments: Found in a heterozygous state in a Caucasian patient with a Hb electrophoretic pattern consistent with β-thalassaemia trait but a clinical phenotype compatible with β-thalassaemia major. Dominant form of β-thalassaemia.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-chain variant |
| Allele Phenotype: | Dominant |
| Stability: | Hyperunstable |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 71906 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Canadian of British descent |
| 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
- Bienz MN, Hsia C, Waye JS, Bode M, Solh Z, A Novel Human β-Globin Gene Variant [Hb London-Ontario, : c.332T>G] is Associated with Transfusion-Dependent Anemia in a Patient with a Hemoglobin Electrophoresis Pattern Consistent with β-Thalassemia Trait., Hemoglobin, 43(2), 129-131, 2019 PubMed
Created on 2019-04-08 11:08:18,
Last reviewed on 2019-11-05 16:03:07 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2019-04-08 11:08:18 | The IthaGenes Curation Team | Created |
| 2 | 2019-11-05 16:03:07 | The IthaGenes Curation Team | Reviewed. Paper added. Comment changed. |
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IthaGenes was last updated on 2024-11-20 13:24:07