IthaID: 4105
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD112 TGT>TCT [Cys>Ser] | HGVS Name: | HBB:c.338G>C |
| Hb Name: | Hb Jiangxi | Protein Info: | N/A |
Context nucleotide sequence:
CAGCTCCTGGGCAACGTGCTGGTCT [G>C] TGTGCTGGCCCATCACTTTGGCAAA (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVSVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
Also known as:
Comments: The c.338G>C variant (Hb Jiangxi) is a missense mutation in the HBB gene, resulting in the substitution of cytosine (TGT) with serine (TCT) at position β112(G14). Initially reported in a heterozygous state in a 29-year-old female from China, this variant was associated with normal hematological indices (Hb 116 g/L, MCV 88.2 fL, MCH 29.7 pg, RBC 3.91E12/L) and hemoglobin fractions of HbA 95.9%, HbF 1.1%, and HbA2 3.0% as determined by capillary electrophoresis (CE). The abnormal hemoglobin variant could not be separated by CE electrophoresis (Capillarys 3 TERA) or HPLC (Bio-Rad D-100) but was detected using MALDI-TOF MS.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available 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: | 71912 |
| 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: | Chinese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
To the best of our knowledge, this is unpublished data. Please use with caution!
Microattributions
| A/A | Contributor(s) | Date | Comments |
|---|---|---|---|
| 1 | Xu, Anping | 2024-07-24 | First report. |