IthaID: 473

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 19 GCG>GAG [Ala>Glu] HGVS Name: HBA2:c.59C>A
Hb Name: Hb J-Tashikuergan Protein Info: α2 19(AB1) Ala>Glu

Context nucleotide sequence:

Protein sequence:

Also known as:

Comments: Initially reported in three unrelated fmilies of the Tajike ethnic group and identified by peptide mapping and amino acid analysis as a Ala > Glu change in the 19th position of the α-chain [PMID: 6548207]. This same amino acid change was reported in the Silk Road region of NW China [PMID: 2265836]. Detected by Sanger sequencing in the HBA2 gene and found to co-elute with HbA1c [PMID: 33315479]. Residue α19 (AB) is in the external and non-helical segment of the α-chain and is not involved in either haem or interchain contacts. The Ala>Glu change at this residue is therefore not expected to be associated with haemoglobin instability or to affect haem binding or oxygen dissociation.

We follow the HGVS sequence variant nomenclature and IUPAC standards.


Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-chain variant
Allele Phenotype:N/A
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: N/A


Chromosome: 16
Locus: NG_000006.1
Locus Location: 33834
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: Tajiks, Chinese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Li HJ, Liu DX, Liu ZG, Li P, Li L, Chen J, Hou SZ, A new fast-moving hemoglobin variant, Hb J-Tashikuergan alpha 19(AB1) Ala----Glu., Hemoglobin , 8(4), 391-5, 1984 PubMed
  2. Li HJ, Zhao XN, Qin F, Li HW, Li L, He XJ, Chang XS, Li ZM, Liang KX, Xing FL, Abnormal hemoglobins in the Silk Road region of China., Hum. Genet. , 86(2), 231-5, 1990 PubMed
  3. Henderson SJ, Timbs AT, McCarthy J, Gallienne AE, Proven M, Rugless MJ, Lopez H, Eglinton J, Dziedzic D, Beardsall M, Khalil MS, Old JM, Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations., Hemoglobin , 40(2), 75-84, 2016 PubMed
  4. Xu J, Zhong Z, Deng Y, Unexpected HbA results in the presence of three rare hemoglobin variants., Scand J Clin Lab Invest, 81(1), 59-64, 2021 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2023-04-28 09:01:18 (Show full history)

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