IthaID: 509
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 34 CTG>CGG [Leu>Arg] | HGVS Name: | HBA1:c.104T>G |
| Hb Name: | Hb Queens | Protein Info: | α1 34(B15) Leu>Arg |
Context nucleotide sequence:
TCTGCTTCTCCCCGCAGGATGTTCC [G/T] GTCCTTCCCCACCACCAAGACCTAC (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFRSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as: Hb Ogi
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: | Unstable |
| Oxygen Affinity: | Increased Oxygen Affinity |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 37800 |
| 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: | Chinese, Japanese, Korean, Thai, Vietnamese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Zeng YT, Huang SZ, Yen YK, Li WC, Lam H, Webber B, Wilson JB, Huisman TH, Hemoglobin Queens (alpha 34 (B15) Leu replaced by Arg) found in two Chinese families., Hemoglobin , 6(2), 209-11, 1982
- Sugihara J, Imamura T, Yamada H, Imoto T, Matsuo T, Sumida I, Yanase T, A new electrophoretic variant of hemoglobin (Ogi) in which a leucine residue is replaced by an arginine residue at position 34 of the alpha-chain., Biochim. Biophys. Acta , 701(1), 45-8, 1982
- Moo-Penn WF, Jue DL, Johnson MH, McGuffey JE, Simpkins H, Katz J, Hemoglobin Queens: alpha 34 (B15) Leu-Arg structural and functional properties and its association with Hb E., Am. J. Hematol. , 13(4), 323-7, 1982
- Yongsuwan S, Svasti J, Fucharoen S, Decreased heat stability found in purified hemoglobin Queens [alpha 34(B15)Leu----Arg]., Hemoglobin , 11(6), 567-70, 1987
- Lee NY, Cho HI, Kim SI, Kim BK, Ohba Y, Hattori Y, A family case of beta-thalassemia minor and hemoglobin Queens: alpha 34 (B15) Leu-Arg., J. Korean Med. Sci. , 7(4), 385-8, 1992
- Fucharoen S, Singsanan S, Hama A, Fucharoen G, Sanchaisuriya K, Rapid molecular characterization of Hb Queens and Hb Siam: two variants easily misidentified as sickle Hb., Clin Biochem, 40(0), 137-40, 2007
- Lin M, Han ZJ, Wang Q, Zheng L, Wang Y, Yang H, Huang Y, Lin F, Zhan XF, Lin CP, Wu JR, Luo ZY, Liu JB, Yan ZH, Zheng SY, Zheng JK, Lu M, Zhu JJ, Xie LX, Yang LY, Molecular epidemiological survey of hemoglobinopathies in the Wuxi region of Jiangsu Province, eastern China., Hemoglobin, 37(5), 454-66, 2013
Created on 2010-06-16 16:13:15,
Last reviewed on 2022-05-04 11:48:07 (Show full history)
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