IthaID: 4118
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 9 TCT>ACT [Ser>Thr] | HGVS Name: | HBB:c.28T>A |
| Hb Name: | Hb Yichun | Protein Info: | N/A |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
GCATCTGACTCCTGAGGAGAAG [T>A] CTGCCGTTACTGCCCTGTGGGG (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
Comments: The c.28T>A variant (p.Ser10Thr) is a missense mutation in the HBB gene, identified in a heterozygous state. It was associated with a normal hematological phenotype and a normal hemoglobin profile as determined by capillary electrophoresis or ion-exchange high-resolution liquid chromatography. The variant was identified through NGS and validated by Sanger sequencing. Reported as a silent Hb variant, both hematologically and electrophoretically.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-chain variant |
| Allele Phenotype: | Silent Hb |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70622 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Chinese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Tan L, Huang T, Luo L, Ma P, Liu J, Zou J, Lu Q, Zou Y, Liu Y, Luo H, Yang B, Molecular Identification and the Hematological Findings of Four Novel Variants in Globin Genes in Jiangxi Province of Southern China., Hemoglobin, 2024