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
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
- 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
- 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
- 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
Created on 2010-06-16 16:13:17,
Last reviewed on 2020-03-04 15:23:28 (Show full history)
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