IthaID: 4161
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 113 GTG>GGG [Val>Gly] | HGVS Name: | HBB:c.341T>G |
| Hb Name: | Hb Hefei | Protein Info: | β 113(G15) Val>Gly |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
CTCCTGGGCAACGTGCTGGTCTGTG [T/G] GCTGGCCCATCACTTTGGCAAAGAA (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCGLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
Comments: Identified in a 57-year-old female with normal hematological indices from Hefei City, Anhui Province, China. The variant was detected by MALDI-TOF MS analysis, showing a mass-to-charge ratio (m/z) of 15,826 Daltons. Capillary electrophoresis (Capillarys 3 TERA) revealed no abnormal peak.
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: | 71915 |
| 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
Sequence Viewer
Publications / Origin
To the best of our knowledge, this is unpublished data. Please use with caution!
Microattributions
| A/A | Contributor(s) | Date | Comments |
|---|---|---|---|
| 1 | Huang, Yueying | 2025-09-17 | First report. |