IthaID: 2381


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
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

External Links

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: 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

Publications / Origin

  1. 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
  2. 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 2017-06-01 15:57:25 (Show full history)

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