IthaID: 3940
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 50 ACT>TCT [Thr>Ser]; IVS II-654 C>T | HGVS Name: | HBB:c.[151A>T;316-197C>T] |
| Hb Name: | Hb Zurich-Langstrasse | Protein Info: | β 50(D1) Thr>Ser |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
Comments: The Hb Zürich-Langstrasse mutation [IthaID:970] in the proband was considered a de novo mutation occurring in cis on the βIVS-II-654 [IthaID:211] allele that he inherited from his mother, resulting in a βIVS-II-654/Hb Zürich-Langstrasse genotype, which should be interpreted as a novel β0 mutation.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia and Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia, β-chain variant |
| Allele Phenotype: | β0 |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70875 or 71693 |
| Size: | 1 bp or 1 bp |
| Located at: | β |
| Specific Location: | Exon 2 |
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
Publications / Origin
- Liao J, Li Q, Ling LQ, Liu CN, Huang XB, Zhou J, A Triple-Heterozygous β-Thalassemia Patient Demonstrated an Unusual Electrophoresis Pattern Due to a Novel β Mutation [an IVS-II-654 (C>T) mutation with a Hb Zürich-Langstrasse (: c.151A>T) mutation ]., Hemoglobin, 2022
Created on 2022-06-24 12:13:58,
Last reviewed on 2022-06-24 13:54:27 (Show full history)
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