IthaID: 3560
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 52 TCT>TGT [Ser>Cys] | HGVS Name: | HBA1:c.158C>G |
| Hb Name: | Hb Dongguan | Protein Info: | α1 52(E1) Ser>Cys |
Context nucleotide sequence:
CGCACTTCGACCTGAGCCACGGCT [C>G] TGCCCAGGTTAAGGGCCACGGCAAG (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGCAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as:
Comments: Found in a 67-year-old man from Dongguan City, Guangdong Province, presenting with microcytic hypochromic anaemia. Co-inherited with deletion --SEA. Characterized by Hb electrophoresis. The isopropanol test for Hb stability was positive.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
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: | 37854 |
| Size: | 1 bp |
| Located at: | α1 |
| Specific Location: | Exon 2 |
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
- Chen WD, Ren YX, Wang YJ, Xie WJ, Li J, Xu AP, Ji L, Compound Heterozygosity for an Unstable Novel Hemoglobin Variant, Hb Dongguan [α52(E1)Ser→Cys (TT>TT); : c.158C>G], and the - - (Southeast Asian) α-Thalassemia Deletion., Hemoglobin, 43(0), 286-288, 2019
Created on 2020-01-17 12:28:29,
Last reviewed on (Show full history)
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