IthaID: 4128
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 108 AAC>AAT [Asn>Asn] | HGVS Name: | HBB:c.327C>T |
| Hb Name: | N/A | Protein Info: | N/A |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
TCTTCCTCCCACAGCTCCTGGGCAA [C>T] GTGCTGGTCTGTGTGCTGGCCCATC (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
Comments: The c.327C>T variant [p.Asn109=] is a synonymous variant in exon 3 of the HBB gene, identified in the heterozygous state with 11.5 g/dL Hb, an MCV of 75.9 fL, and an MCH of 23.5 pg/cell. It was detected as part of a large-scale thalassemia gene test using flow-through hybridization and gene chip (FHGC) technology and was validated or confirmed by electrophoretic and sequencing methods.
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: | 71901 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 3 |
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
Sequence Viewer
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 PubMed