IthaID: 3559
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | CD 65 AAG>GAG [Lys>Glu] | HGVS Name: | HBB:c.196A>G |
| Hb Name: | Hb Guangxi | Protein Info: | β 65(E9) Lys>Glu |
Context nucleotide sequence:
CAACCCTAAGGTGAAGGCTCATGGC [A>G] AGAAAGTGCTCGGTGCCTTTAGTGA (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGEKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
Also known as:
Comments: Found in a female from Guilin municipality in the Guangxi Zhuang Autonomous Region. Variant interfered with Hb A1c analysis by CapillaryS2 resulting in no Hb A1c value. It was characterized by both CE and HPLC (VARIANT II). The isopropanol test for Hb stability was negative and no inclusions were observed under the microscope.
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: | 70920 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 2 |
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 M, Chen WD, Wang YJ, Zhou Y, Li J, Xu AP, Ji L, Hb Guangxi [β65(E9)Lys→Glu (>AG); : c.196A>G]: A Novel β-Globin Variant., Hemoglobin, 2019