IthaID: 730


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 122 CAC>CAG [His>Gln] HGVS Name: HBA2:c.369C>G
Hb Name: Hb Westmead Protein Info: α2 122(H5) His>Gln

Context nucleotide sequence:
CCGCCGAGTTCACCCCTGCGGTGCA [C/G] GCCTCCCTGGACAAGTTCCTGGCTT (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVQASLDKFLASVSTVLTSKYR

Also known as:

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: 34403
Size: 1 bp
Located at: α2
Specific Location: Exon 3

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Chinese, Laotian, Thai
Molecular mechanism: Mutated Bohr effect
Inheritance: Recessive
DNA Sequence Determined: Yes

Frequencies

Publications / Origin

  1. Fleming PJ, Hughes WG, Farmilo RK, Wyatt K, Cooper WN, Hemoglobin Westmead alpha 2 122(H5)His replaced by Gln beta 2: a new hemoglobin variant with the substitution in the alpha 1 beta 1 contact area., Hemoglobin , 4(1), 39-52, 1980
  2. Jiang NH, Liang S, Wen XJ, Liang R, Su C, Tang Z, Hb Westmead: an alpha 2-globin gene mutation detected by polymerase chain reaction and Stu I cleavage., Hemoglobin , 15(4), 291-5, 1991
  3. Gu YC, Gu LH, Wilson JB, Cepreganova B, Ramachandran M, Walker EL, Huisman TH, Potitong P, Hb Westmead [alpha 122(H5)His----Gln], Hb E [beta 26(B8)Glu----Lys], and alpha-thalassemia-2 (3.7 Kb deletion) in a Laotian family., Hemoglobin , 15(4), 297-302, 1991
  4. Wong WS, Chan AY, Yip SF, Ma ES, Thalassemia intermedia due to co-inheritance of beta0/beta(+)-thalassemia and (- -SEA) alpha-thalassemia/Hb Westmead [alpha122(H5)His > Gln (alpha2)] in a Chinese family., Hemoglobin , 28(2), 151-6, 2004
  5. 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 2010-06-16 16:13:16, Last reviewed on 2017-06-01 16:09:34 (Show full history)

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