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:
CCGCCGAGTTCACCCCTGCGGTGCA [C/G] GCCTCCCTGGACAAGTTCCTGGCTT (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVQASLDKFLASVSTVLTSKYR
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
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 |
In silico pathogenicity prediction
Frequencies
Publications / Origin
- 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
- 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
- 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
- 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
- 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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