IthaID: 494

Names and Sequences

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

Context nucleotide sequence:

Protein sequence:

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.


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]


Chromosome: 16
Locus: NG_000006.1
Locus Location: 33855
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, Thai
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

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
  3. Panyasai S, Kongthai K, Phasit A, Association of Hb Shenyang [α26(B7)Ala→Glu, GG>GG, : c.80C>A (or )] with Several Types of α-Thalassemia in Thailand., Hemoglobin, 44(5), 354-360, 2020 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2021-04-07 09:47:17 (Show full history)

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