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:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

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

In silico pathogenicity prediction

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

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)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.