IthaID: 3841
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 15 GGT>AGT [Gly>Ser] | HGVS Name: | HBA2:c.46G>A |
| Hb Name: | Hb Nanchang | Protein Info: | N/A |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
CAAGACCAACGTCAAGGCCGCCTGG [G/A] GTAAGGTCGGCGCGCACGCTGGCGA (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWSKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Comments: Found in a 7-year-old female with Hb 12.0 g/dL, RBC 4.79×10^12/L, MCV 76.4 fL, MCH 25.7 pg and MCHC 33.3 g/L. Capillary electrophoresis showed normal levels of HbA 97.3%, HbA2 2.7%. It was also detected in a 33-year-old female by MALDI-TOF MS (via the sufficient mass difference between the wild and variant globin chains) and in a girl with normal hematological parameters.
External Links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia and Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia, α-chain variant |
| Allele Phenotype: | α⁺ |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 33821 |
| Size: | 1 bp |
| Located at: | α2 |
| 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
- Yao XY, Yu J, Chen SP, Xiao JW, Zheng QC, Liu HY, Zhang L, Xian Y, Zou L, Prevalence and genetic analysis of α-thalassemia and β-thalassemia in Chongqing area of China., Gene , 532(1), 120-4, 2013
- Xu A, Chen W, Xie W, Zheng H, Zhou Y, Ji L, A Novel α-Globin Chain Variant, Hb Nanchang [HBA2: c.46G>A, Codon 15 (GGT>AGT) (Gly→Ser)], Detected by Matrix-Assisted Laser Desorption Ionization-Time of Flight Mass Spectrometry., Hemoglobin, 2021
Microattributions
| A/A | Contributor(s) | Date | Comments |
|---|---|---|---|
| 1 | Li, Youqiong | 2021-07-29 | First report. |