IthaID: 2381
Names and Sequences
Functionality: | Globin gene causative mutation | Pathogenicity: | Benign / Likely Benign |
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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 |
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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) |
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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
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
- 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 PubMed
- 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 PubMed
Created on 2014-05-26 10:39:21,
Last reviewed on 2022-07-12 13:27:48 (Show full history)
A/A | Date | Curator(s) | Comments |
---|---|---|---|
1 | 2014-05-26 10:39:21 | The IthaGenes Curation Team | Created |
2 | 2017-06-01 15:57:25 | The IthaGenes Curation Team | Reviewed. Mutation Name and DNA Info, and Other Details sections updated. Reference added. |
3 | 2022-07-12 13:27:48 | The IthaGenes Curation Team | Reviewed. Haemoglobinopathy group corrected. |
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IthaGenes was last updated on 2024-12-03 11:48:06