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.
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: | 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 |
In silico pathogenicity prediction
Publications / Origin
- 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
- 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
- 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