IthaID: 509
Names and Sequences
Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
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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 |
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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) |
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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
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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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 PubMed
- 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 PubMed
- 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 PubMed
- 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 PubMed
- 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 PubMed
- 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 PubMed
- 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 PubMed
Created on 2010-06-16 16:13:15,
Last reviewed on 2022-05-04 11:48:07 (Show full history)
A/A | Date | Curator(s) | Comments |
---|---|---|---|
1 | 2010-06-16 16:13:15 | The IthaGenes Curation Team | Created |
2 | 2014-03-13 13:22:33 | The IthaGenes Curation Team | Reviewed. |
3 | 2021-03-11 16:38:15 | The IthaGenes Curation Team | Reviewed. HGVS and protein name corrected. References added. |
4 | 2022-05-04 11:48:07 | The IthaGenes Curation Team | Reviewed. Links edited. |
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IthaGenes was last updated on 2024-09-28 12:00:32