IthaID: 470



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 16 AAG>AAT [Lys>Asn] HGVS Name: HBA2:c.51G>T
Hb Name: Hb Beijing Protein Info: α2 16(A14) Lys>Asn

Context nucleotide sequence:
CATACTCGCCAGCGTGCGCGCCGAC [G/T] TTACCCCAGGCGGCCTTGACGTTGG (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGNVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

Comments: Found in a 24-year-old Chinese presented with normal hematological indices and no clinical symptoms. The variant also found in compound heterozygosity with Hb E [IthaID: 88] and the deletional --SEA [IthaID: 309] in a 14-year-old Thai boy presented with chronic hypochromic microcytic anaemia and occasional blood transfusions. His father who carried only the Hb Beijing and Hb E presented with normal hematological indices. HPLC analysis shown reduced HbA levels and the present of HbE and the abnormal Hb Beijing (39.1 %, 14.7 %) in both boy and father respectively.

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: 33826
Size: 1 bp
Located at: α2
Specific Location: Exon 1

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Chinese, Thai
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

Sequence Viewer

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Publications / Origin

  1. Liang CC, Chen S, Yang K, Jia P, Ma Y, Li T, Ni X, Wang X, Deng Q, Yao S, Hemoglobin Beijing [alpha 16 (A14) Lys replaced by Asn]: a new fast-moving hemoglobin variant., Hemoglobin , 6(6), 629-33, 1982 PubMed
  2. Fucharoen S, Chunpanich S, Sanchaisuriya K, Fucharoen G, Kunyanone N, Thalassemia intermedia associated with complex interaction of Hb Beijing [alpha16(A14)Lys-->Asn] and Hb E [beta26(B8)Glu-->Lys] with a deletional alpha-thalassemia-1 in a Thai family., Hemoglobin, 29(1), 77-83, 2005 PubMed
  3. 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 2021-03-11 14:00:43 (Show full history)

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