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:
AAGGCCGCCTGGGGTAAGGTCGGCG [C/A] GCACGCTGGCGAGTATGGTGCGGAG (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGEHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

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: 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: Afghan, Tajike
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

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 2021-04-07 09:43:01 (Show full history)

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