IthaID: 4127
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 81 CTC>CTA [Leu>Leu] | HGVS Name: | HBB:c.246C>A |
| Hb Name: | N/A | Protein Info: | N/A |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
GCCTGGCTCACCTGGACAACCT [C>A] AAGGGCACCTTTGCCACACTGAG (Strand: +)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
Comments: The c.246C>A variant [p.Leu82=] is a synonymous variant in exon 2 of the HBB gene, identified in the heterozygous state with 12.2 g/dL Hb, an MCV of 78.4 fL, and an MCH of 25.1 pg/cell. It was detected as part of thalassemia gene testing using flow-through hybridization and gene chip (FHGC) technology and/or electrophoretic and sequencing methods.
External Links
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: | 70970 |
| 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: | Chinese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Zhao X, You Z, Deng Y, Zhou Y, Deng D, Quan J, Chen F, Yan Z, Qi Y, Chen L, Xiang F, Zheng W, Zhang R, The distribution and spectrum of thalassemia variants in GUIYANG region, southern China., Orphanet J Rare Dis, 20(1), 56, 2025