IthaID: 730
Names and Sequences
Functionality: | Globin gene causative mutation | Pathogenicity: | Benign / Likely Benign |
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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 |
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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) |
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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
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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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 PubMed
- 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
- 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
- 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
- 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)
A/A | Date | Curator(s) | Comments |
---|---|---|---|
1 | 2010-06-16 16:13:16 | The IthaGenes Curation Team | Created |
2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
3 | 2014-04-14 18:41:12 | The IthaGenes Curation Team | Reviewed. Added common name, references and ClinVar link. |
4 | 2017-06-01 16:09:34 | The IthaGenes Curation Team | Reviewed. Other Details section updated. Reference added. |
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IthaGenes was last updated on 2024-09-28 12:00:32