IthaID: 2381
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Benign / Likely Benign |
|---|---|---|---|
| Common Name: | CD 32 ATG>AAG [Met>Lys] | HGVS Name: | HBA1:c.98T>A |
| Hb Name: | Hb Queens Park | Protein Info: | α1 32(B13) Met>Lys |
Context nucleotide sequence:
CCTCACTCTGCTTCTCCCCGCAGGA [A/T] GTTCCTGTCCTTCCCCACCACCAAG (Strand: +)
Also known as: Hb Chao Pra Ya
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia and Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia, α-chain variant |
| Allele Phenotype: | α⁺ |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 37794 |
| 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: | Burmese, Thai |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Phylipsen M, Prior JF, Lim E, Lingam N, Finlayson J, Arkesteijn SG, Harteveld CL, Giordano PC, Two new alpha1-globin gene point mutations: Hb Nedlands (HBA1:c.86C>T) [alpha28(B9)Ala-->Val] and Hb Queens Park (HBA1:c.98T>A) [alpha32(B13)Met-->Lys]., Hemoglobin , 34(2), 123-6, 2010
- Viprakasit V, Ekwattanakit S, Chalaow N, Riolueang S, Wijit S, Tanyut P, Chat-Uthai N, Tachavanich K, Clinical presentation and molecular identification of four uncommon alpha globin variants in Thailand. Initiation codon mutation of α2-globin Gene (HBA2:c.1delA), donor splice site mutation of α1-globin gene (IVSI-1, HBA1:c.95 + 1G>A), hemoglobin Queens Park/Chao Pra Ya (HBA1:c.98T>A) and hemoglobin Westmead (HBA2:c.369C>G)., Acta Haematol. , 131(2), 88-94, 2014
Created on 2014-05-26 10:39:21,
Last reviewed on 2022-07-12 13:27:48 (Show full history)
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