
IthaID: 3841
Names and Sequences
Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
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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 presented 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 shown normal levels of HbA 97.3%, HbA2 2.7%. Also detected in a 33-year-old female by MALDI-TOF MS via the sufficient mass difference between the wild and variant globin chains.
External Links
Phenotype
Hemoglobinopathy Group: | Thalassaemia and Structural Haemoglobinopathy |
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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) |
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Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
Ethnic Origin: | Chinese |
Molecular mechanism: | N/A |
Inheritance: | Recessive |
DNA Sequence Determined: | Yes |
Publications / Origin
- 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. |
Created on 2021-07-30 12:47:10,
Last reviewed on 2022-07-12 11:30:26 (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. |
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IthaGenes was last updated on 2022-08-09 09:44:31