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 |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
CCTTAGGCTGCTGGTGGTCTACCCT [T/A] GGACCCAGAGGTTCTTTGAGTCCTT (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPRTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
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.
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
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)
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