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
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
Sequence Viewer
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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 PubMed
- Eliakim R, Rachmilewitz EA, Hemoglobinopathies in Israel., Hemoglobin, 7(5), 479-85, 1983 PubMed
- 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 PubMed
- 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 PubMed
Created on 2010-06-16 16:13:15,
Last reviewed on 2024-09-09 14:23:51 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:15 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2014-03-28 14:33:59 | The IthaGenes Curation Team | Reviewed. |
| 4 | 2021-03-31 10:31:22 | The IthaGenes Curation Team | Reviewed. Reference added. |
| 5 | 2024-09-09 14:23:51 | The IthaGenes Curation Team | Reviewed. Select gene, HGVS name and locations corrected. References and link added. |
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IthaGenes was last updated on 2024-11-20 13:24:07