IthaID: 495
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 27 GAG>AAG [Glu>Lys] | HGVS Name: | HBA2:c.82G>A |
| Hb Name: | Hb Shuangfeng | Protein Info: | α2 27(B8) Glu>Lys |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
CGCGCACGCTGGCGAGTATGGTGCG [G/A] AGGCCCTGGAGAGGTGAGGCTCCCT (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAKALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
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: | 33857 |
| 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
- Chihchuan L, Hainan T, Hweiyuen L, Shangzhi H, Ruiyou L, Bauseng W, Hemoglobin Shuangfeng (alpha 27 (B8) Glu substituting for Lys): a new unstable hemoglobin variant., Hemoglobin , 5(7), 691-700, 1981
- Huang CH, Lu YQ, Zhu DE, Yuan TY, Oxygen equilibrium characteristics of four abnormal hemoglobins found in Hunan., Chin. Med. J. , 98(7), 515-9, 1985
- Wang Y, Zhang P, Zhou H, Sun Y, Jiang P, Effect of Hb Shuangfeng on HbA1c results., Scand J Clin Lab Invest, 77(5), 394-396, 2017
Created on 2010-06-16 16:13:15,
Last reviewed on 2021-04-07 09:49:46 (Show full history)
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