IthaID: 3599
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 13 GCC>TCC [Ala>Ser] | HGVS Name: | HBA2:c.40G>T |
| Hb Name: | Hb Binyang | Protein Info: | α2 13(A11) Ala>Ser |
Context nucleotide sequence:
TGCCGACAAGACCAACGTCAAGGCC [G>T] CCTGGGGTAAGGTCGGCGCGCACGC (Strand: +)
Protein sequence:
MVLSPADKTNVKASWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as:
Comments: Reported during an epidemiological survey in two unrelated individuals in the Guangxi Zhuang Autonomous Region. The HbA2 level was 1.97% in one carrier state, and 4.47% in another individual who was heterozygous for both this α-globin variant and a β0-thalassaemia mutation (HBB:c.52A>T).
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia and Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia, α-chain variant |
| Allele Phenotype: | N/A |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 33815 |
| 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
- Xiong F, Sun M, Zhang X, Cai R, Zhou Y, Lou J, Zeng L, Sun Q, Xiao Q, Shang X, Wei X, Zhang T, Chen P, Xu X, Molecular epidemiological survey of haemoglobinopathies in the Guangxi Zhuang Autonomous Region of southern China., Clin. Genet., 78(2), 139-48, 2010
- Shang X, Peng Z, Ye Y, Asan , Zhang X, Chen Y, Zhu B, Cai W, Chen S, Cai R, Guo X, Zhang C, Zhou Y, Huang S, Liu Y, Chen B, Yan S, Chen Y, Ding H, Yin X, Wu L, He J, Huang D, He S, Yan T, Fan X, Zhou Y, Wei X, Zhao S, Cai D, Guo F, Zhang Q, Li Y, Zhang X, Lu H, Huang H, Guo J, Zhu F, Yuan Y, Zhang L, Liu N, Li Z, Jiang H, Zhang Q, Zhang Y, Juhari WKW, Hanafi S, Zhou W, Xiong F, Yang H, Wang J, Zilfalil BA, Qi M, Yang Y, Yin Y, Mao M, Xu X, Rapid Targeted Next-Generation Sequencing Platform for Molecular Screening and Clinical Genotyping in Subjects with Hemoglobinopathies., EBioMedicine, 23(0), 150-159, 2017
Created on 2020-07-01 08:35:18,
Last reviewed on 2021-09-23 11:34:36 (Show full history)
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