IthaID: 1364
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 43 GAG>AAG | HGVS Name: | HBD:c.130G>A |
| Hb Name: | Hb A2-Melbourne | Protein Info: | δ 43(CD2) Glu>Lys |
Context nucleotide sequence:
CTACCCTTGGACCCAGAGGTTCTTT [A/G] AGTCCTTTGGGGATCTGTCCTCTCC (Strand: -)
Protein sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFKSFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | δ-chain variant |
| Allele Phenotype: | N/A |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 63440 |
| Size: | 1 bp |
| Located at: | δ |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Italian, Laotian, Thai |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
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
- Sharma RS, Harding DL, Wong SC, Wilson JB, Gravely ME, Huisman TH, A new delta chain variant, haemoglobin-A2-Melbourne or alpha2 delta2 43Glu-Lys(CD2)., Biochimica et biophysica acta, 359(2), 233-5, 1974 PubMed
- Chaibunruang A, Fucharoen G, Fucharoen S, First description of a Hb A2 variant in Thailand. Identification of Hb A2-Melbourne [δ43(CD2)Glu→Lys] in Thai individuals., Hemoglobin, 36(1), 80-4, 2012 PubMed
- Panyasai S, Fucharoen G, Fucharoen S, Known and new hemoglobin A2 variants in Thailand and implication for β-thalassemia screening., Clin. Chim. Acta , 438(0), 226-30, 2015 PubMed
- Jomoui W, Panichchob P, Rujirachaivej P, Panyasai S, Tepakhan W, Coinheritance of Hb A-Melbourne (: c.130G>A) and Hb E (: c.79G>A) in Laos and Simultaneous High Resolution Melt Detection of Hb A-Melbourne and Hb A-Lampang (: c.142G>A) in a Single Tube., Hemoglobin, 43(3), 214-217, 2019 PubMed
Created on 2010-06-16 16:13:17,
Last reviewed on 2020-03-04 15:23:28 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:17 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2020-02-28 10:31:50 | The IthaGenes Curation Team | Reviewed. Comment, Origin and Reference added |
| 4 | 2020-02-28 10:32:33 | The IthaGenes Curation Team | Reviewed. |
| 5 | 2020-03-04 15:23:28 | The IthaGenes Curation Team | Reviewed. References and Origin added. Comment deleted. |
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IthaGenes was last updated on 2024-11-20 13:24:07