IthaID: 495

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 27 GAG>AAG [Glu>Lys] HGVS Name: HBA1:c.82G>A | HBA2:c.82G>A
Hb Name: Hb Shuangfeng Protein Info: α2 or α1 27(B8) Glu>Lys

Context nucleotide sequence:

Protein sequence:

Also known as:

External Links


Chromosome: 16
Locus: NG_000006.1
Locus Location: 33857 or 37661
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: Unstable
Oxygen Affinity: N/A
Associated Phenotypes: Haemolytic anaemia [HP:0001878]

Other details

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

Sequence Viewer

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Publications / Origin

  1. Chihchuan L, Hainan T, Hweiyuen L, Shangzhi H, Ruiyou L, Bauseng W, Hemoglobin Shuangfeng (alpha 27 (B8) Glu substituting for Lys): a new unstable hemoglobin variant., Hemoglobin , 5(7), 691-700, 1981 PubMed
  2. Huang CH, Lu YQ, Zhu DE, Yuan TY, Oxygen equilibrium characteristics of four abnormal hemoglobins found in Hunan., Chin. Med. J. , 98(7), 515-9, 1985 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2014-03-13 10:07:16 (Show full history)

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