IthaID: 3556
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 124 CCA>ACA [Pro>Thr] | HGVS Name: | HBB:c.373C>A |
| Hb Name: | Hb Gibbon | Protein Info: | β 124(H2) Pro>Thr |
Context nucleotide sequence:
CCATCACTTTGGCAAAGAATTCACC [C>A] CACCAGTGCAGGCTGCCTATCAGAA (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTTPVQAAYQKVVAGVANALAHKYH
Also known as: Hb Yuxi
Comments: Hb Gibbon was identified by newborn screening in a male proband with no family history for haemoglobinopathy or other screening abnormalities. Child was born to Caucasian parents. Father was carrier for this variant. Normal electrophoretic pattern by CE at age 1 month. Variant detection by HPLC (VARIANT II) and Q-TOF MS. Normal blood indices with borderline microcytosis at age 12 months, which persisted at age 17 months. Residue Hb β-Pro124 stabilizes the Hb α1-β1 interaction at α-Arg31 and α-Leu34. In a second case, the 373C>A found in a 27-year-old female and her mother both presented with normal hematological parameters.
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: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 71947 |
| 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: | American, Chinese |
| Molecular mechanism: | Altered interface |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Wolf A, Rohr JM, Amador C, Starr LJ, Hoyer JD, Ford JB, Hb Gibbon [β124(H2)Pro→Thr (: c.373C>A, p.P125T)], an Asymptomatic Novel Hemoglobin Variant Detected by Newborn Screening., Hemoglobin, 43(3), 207-209, 2019
- Zhang J, Xie M, Peng Z, Zhou X, Zhao T, Jin C, Yan Y, Zeng X, Li D, Zhang Y, Su J, Feng N, He J, Yao X, Lv T, Zhu B, Five novel globin gene mutations identified in five Chinese families by next-generation sequencing., Mol Genet Genomic Med, 9(12), e1835, 2021