IthaID: 730

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Benign / Likely Benign
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:

Protein sequence:

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.


Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-chain variant
Allele Phenotype:N/A
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: N/A


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

In silico pathogenicity prediction

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.


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 PubMed
  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 PubMed
  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 PubMed
  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 PubMed
  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 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2017-06-01 16:09:34 (Show full history)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.