IthaID: 564
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 56 AAG>GAG [Lys>Glu] | HGVS Name: | HBA2:c.169A>G |
| Hb Name: | Hb Shaare Zedek | Protein Info: | α2 56(E5) Lys>Glu |
Context nucleotide sequence:
CCTGAGCCACGGCTCTGCCCAGGTT [A/G] AGGGCCACGGCAAGAAGGTGGCCGA (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVEGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as:
Comments: Hb Shaare Zedek is a rare structural α-Hb chain variant first identified in a Jewish family of Persian descent and later in a Chinese patient. In a recent report, Thai patients with Hb Shaare Zedek in both the heterozygote form and in combination with β0-thalassemia, are described.
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: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 34061 |
| Size: | 1 bp |
| Located at: | α2 |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Jewish, Chinese, Thai |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Abramov A, Lehmann H, Robb L, Hb Shaare Zedek (alpha 56 E5 Lys leads to Glu)., FEBS Lett. , 113(2), 235-7, 1980
- Eliakim R, Rachmilewitz EA, Hemoglobinopathies in Israel., Hemoglobin, 7(5), 479-85, 1983
- Li Y, Tian M, Qin T, Wan L, Capillary Electrophoresis Resolves Inconclusive HPLC Analysis for Hemoglobin Variants: a Study of Two Cases., Clin Lab, 64(7), 1305-1309, 2018
- Satthakarn S, Srisuwan W, Kunyanone N, Panyasai S, Novel Insights into Hb Shaare Zedek Associated with β-Thalassemia: Molecular Characteristics, Genetic Origin and Diagnostic Approaches., Int J Mol Sci, 25(16), , 2024
Created on 2010-06-16 16:13:15,
Last reviewed on 2024-09-09 14:23:51 (Show full history)
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