IthaID: 494
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Benign / Likely Benign |
|---|---|---|---|
| Common Name: | CD GCG>GAG [Ala>Glu] | HGVS Name: | HBA2:c.80C>A |
| Hb Name: | Hb Shenyang | Protein Info: | α2 26(B7) Ala>Glu |
Context nucleotide sequence:
GGCGCGCACGCTGGCGAGTATGGTG [C/A] GGAGGCCCTGGAGAGGTGAGGCTCC (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGEEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | α-chain variant |
| Allele Phenotype: | N/A |
| Stability: | Unstable |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 33855 |
| 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, Thai |
| 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
- Zeng YT, Huang SZ, Zhou XD, Qiu XK, Dong QY, Li MY, Bai JH, Hb Shenyang (alpha 26 (B7) Ala replaced by Glu): a new unstable variant found in China., Hemoglobin , 6(6), 625-8, 1982 PubMed
- Yi CH, Li HJ, Li HW, Zhang XS, Zhao XN, Zhang CT, Hemoglobin Shenyang found among Uygurs in P.R. China., Hemoglobin , 13(1), 97-9, 1989 PubMed
- Panyasai S, Kongthai K, Phasit A, Association of Hb Shenyang [α26(B7)Ala→Glu, GG>GG, : c.80C>A (or )] with Several Types of α-Thalassemia in Thailand., Hemoglobin, 44(5), 354-360, 2020 PubMed
Created on 2010-06-16 16:13:15,
Last reviewed on 2021-04-07 09:47:17 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:15 | The IthaGenes Curation Team | Created |
| 2 | 2014-03-13 10:04:06 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2021-04-07 09:47:17 | The IthaGenes Curation Team | Reviewed. HGVS, protein name and Locus location corrected. Reference added. |
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IthaGenes was last updated on 2024-11-20 13:24:07