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 |
Context nucleotide sequence:
CAAGACCAACGTCAAGGCCGCCTGG [G/A] GTAAGGTCGGCGCGCACGCTGGCGA (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWSKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as:
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
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
Sequence Viewer
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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 PubMed
- 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 PubMed
Microattributions
| A/A | Contributor(s) | Date | Comments |
|---|---|---|---|
| 1 | Li, Youqiong | 2021-07-29 | First report. |
Created on 2021-07-30 12:47:10,
Last reviewed on 2023-01-26 09:45:49 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2021-07-30 12:47:10 | The IthaGenes Curation Team | Created |
| 2 | 2021-07-30 12:48:46 | The IthaGenes Curation Team | Reviewed. Comment added. |
| 3 | 2021-07-30 12:50:41 | The IthaGenes Curation Team | Reviewed. Link added. |
| 4 | 2021-10-14 09:31:35 | The IthaGenes Curation Team | Reviewed. Hb name and reference added. |
| 5 | 2021-10-14 09:49:02 | The IthaGenes Curation Team | Reviewed. Comment added. |
| 6 | 2022-07-12 11:30:26 | The IthaGenes Curation Team | Reviewed. Allele phenotype added. |
| 7 | 2023-01-26 09:45:49 | The IthaGenes Curation Team | Reviewed. Reference added, Comment updated. |
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IthaGenes was last updated on 2023-03-22 16:46:31