IthaID: 473

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 19 GCG>GAG [Ala>Glu] HGVS Name: HBA1:c.59C>A | HBA2:c.59C>A
Hb Name: Hb J-Tashikuergan Protein Info: α2 or α1 19(AB1) Ala>Glu

Context nucleotide sequence:

Protein sequence:

Also known as:


Chromosome: 16
Locus: NG_000006.1
Locus Location: 33834 or 37638
Size: 1 bp or 1 bp
Located at: α1 or α2
Specific Location: Exon 1


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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Afghan, Tajike
Inheritance: Recessive
DNA Sequence Determined: No

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
Created on 2010-06-16 16:13:15, Last reviewed on 2014-05-21 09:05:55 (Show full history)

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