IthaID: 494



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD GCG>GAG [Ala>Glu] HGVS Name: HBA1:c.80C>A | HBA2:c.80C>A
Hb Name: Hb Shenyang Protein Info: α2 or α1 26(B7) Ala>Glu

Context nucleotide sequence:
GGCGCGCACGCTGGCGAGTATGGTG [A/C/T] GGAGGCCCTGGAGAGGTGAGGCTCC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGEEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 33855 or 37659
Size: 1 bp or 1 bp
Located at: α1 or α2
Specific Location: Exon 1

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]

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
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Zeng YT, Huang SZ, Zhou XD, Qiu XK, Dong QY, Li MY, Bai JH, Hb Shenyang (alpha 26 (B7) Ala replaced by Glu): a new unstable variant found in China., Hemoglobin , 6(6), 625-8, 1982 PubMed
  2. Yi CH, Li HJ, Li HW, Zhang XS, Zhao XN, Zhang CT, Hemoglobin Shenyang found among Uygurs in P.R. China., Hemoglobin , 13(1), 97-9, 1989 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2014-03-13 10:04:06 (Show full history)

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