IthaID: 928
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | CD 37 TGG>AGG [Trp>Arg] | HGVS Name: | HBB:c.112T>A |
| Hb Name: | Hb Rothschild | Protein Info: | β 37(C3) Trp>Arg |
Context nucleotide sequence:
CCTTAGGCTGCTGGTGGTCTACCCT [T/A] GGACCCAGAGGTTCTTTGAGTCCTT (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPRTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
Also known as:
Comments: The amino acid substitution (Trp>Arg) is an important contact point at the α1β2 interface and favors a T-quaternary state of the Hb tetramer. This leads to a low oxygen affinity state, which results in premature release of oxygen and drop in oxygen saturation.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-chain variant |
| Allele Phenotype: | N/A |
| Stability: | N/A |
| Oxygen Affinity: | Decreased Oxygen Affinity |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70836 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Caucasian, Chinese |
| 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
- Gacon G, Belkhodja O, Wajcman H, Labie D, Najman A, Structural and functional studies of Hb Rothschild beta (C3) Trp replaced by Arg. A new variant of the alpha1beta2 contact., FEBS letters, 82(2), 243-6, 1977 PubMed
- Li D, Wan Q, Li C, Ma H, Wang G, A case of Hb Rothschild (: c.112T>A) with low pulse oximetry: a first familial presentation in China., Hematology, 27(1), 1204-1207, 2022 PubMed
Created on 2010-06-16 16:13:16,
Last reviewed on 2023-03-06 16:26:10 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:16 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2022-11-14 16:16:50 | The IthaGenes Curation Team | Reviewed. HGVS and common name corrected. Publication and origin added. |
| 4 | 2023-03-06 16:26:10 | The IthaGenes Curation Team | Reviewed. Comment edits. |
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IthaGenes was last updated on 2024-11-20 13:24:07