IthaID: 4131
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 105 CTG>TTG [Leu>Leu] | HGVS Name: | HBA2:c.316C>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:
TTCTCTGCACAGCTCCTAAGCCACTGC [C>T] TGCTGGTGACCCTGGCCGCCCACCTCC (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Comments: The c.316C>T [p.Leu106=] variant is a synonymous variant in exon 3 of the HBA2 gene, identified in the heterozygous state with an MCV of 73.8 fL and an MCH of 23.8 pg/cell. It was detected during thalassemia gene testing using flow-through hybridization and gene chip (FHGC) technology and/or electrophoretic and sequencing methods.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 34350 |
| Size: | 1 bp |
| Located at: | α2 |
| 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