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
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
- 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
- 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
Created on 2010-06-16 16:13:15,
Last reviewed on 2021-04-07 09:47:17 (Show full history)
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