IthaID: 495



Names and Sequences

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

Context nucleotide sequence:
CGCGCACGCTGGCGAGTATGGTGCG [G/A] AGGCCCTGGAGAGGTGAGGCTCCCT (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAKALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

External Links

Phenotype

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]

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 33857
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
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

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
  3. Wang Y, Zhang P, Zhou H, Sun Y, Jiang P, Effect of Hb Shuangfeng on HbA1c results., Scand J Clin Lab Invest, 77(5), 394-396, 2017 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2021-04-07 09:49:46 (Show full history)

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