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.

External Links

HbVar	dbSNP
OMIM	SwissVar

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

IthaPhen

Heterozygous records (preview in IthaPhen)

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

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

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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