IthaID: 79
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 19 AAC>AGC [Asn>Ser] | HGVS Name: | HBB:c.59A>G |
| Hb Name: | Hb Malay | Protein Info: | β 19(B1) Asn>Ser |
Context nucleotide sequence:
GTTACTGCCCTGTGGGGCAAGGTGA [A>G] CGTGGATGAAGTTGGTGGTGAGGCC (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVSVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
Also known as:
Comments: The c.59A>G variant [β 19(B1) Asn>Ser] is a missense variant in the HBB gene that results in a mild β+ allele phenotype. Both homozygotes and compound heterozygotes with Hb E [ithaID: 88] exhibit mild disease, characterized by severe hypochromic microcytic anaemia, but they do not require blood transfusions. The CD19 AAG>ACG change contributed to thalassaemia by activating a cryptic splice site in this region of the HBB gene.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia and Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia, β-chain variant |
| Allele Phenotype: | β++ Thalassaemia |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70653 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Cryptic splice site (mRNA Processing) |
| Ethnic Origin: | SE Asian, Chinese , Malaysian , Singapore, Thai |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Sequence Viewer
Frequencies
Publications / Origin
- Yang KG, Kutlar F, George E, Wilson JB, Kutlar A, Stoming TA, Gonzalez-Redondo JM, Huisman TH, Molecular characterization of beta-globin gene mutations in Malay patients with Hb E-beta-thalassaemia and thalassaemia major., British journal of haematology, 72(1), 73-80, 1989 PubMed
- Thein SL, Winichagoon P, Hesketh C, Best S, Fucharoen S, Wasi P, Weatherall DJ, The molecular basis of beta-thalassemia in Thailand: application to prenatal diagnosis., American journal of human genetics, 47(3), 369-75, 1990 PubMed
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:14 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2024-08-06 12:09:21 | The IthaGenes Curation Team | Reviewed. Comment added |