IthaID: 3401
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | CD 9 TCT>TTT [Ser>Phe] | HGVS Name: | HBB:c.29C>T |
| Hb Name: | Hb Hengyang | Protein Info: | β 9(A6) Ser>Phe |
Context nucleotide sequence:
GTGCATCTGACTCCTGAGGAGAAGT [C/T] TGCCGTTACTGCCCTGTGGGGCAAG (Strand: -)
Protein sequence:
MVHLTPEEKFAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
Also known as:
Comments: Its chromatographic profile suggests interference during the monitoring of glycated haemoglobin (HbA1c).
We follow the HGVS sequence variant nomenclature and IUPAC standards.
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: | 70623 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 1 |
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
- Xu A, Lei J, Li J, Chen W, Zhou Y, Zheng R, Li X, Ji L, Hb Hunan and Hb Hengyang: Two unexpected discoveries during HbA1c measurements., Clin. Chem. Lab. Med., 2019
Created on 2019-04-11 16:36:57,
Last reviewed on 2019-04-12 14:05:50 (Show full history)
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