IthaID: 3560



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 52 TCT>TGT [Ser>Cys] HGVS Name: HBA1:c.158C>G
Hb Name: Hb Dongguan Protein Info: α1 52(E1) Ser>Cys

Context nucleotide sequence:
CGCACTTCGACCTGAGCCACGGCT [C>G] TGCCCAGGTTAAGGGCCACGGCAAG (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGCAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

Comments: Found in a 67-year-old man from Dongguan City, Guangdong Province, presenting with microcytic hypochromic anaemia. Co-inherited with deletion --SEA. Characterized by Hb electrophoresis. The isopropanol test for Hb stability was positive.

External Links

No available links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 37854
Size: 1 bp
Located at: α1
Specific Location: Exon 2

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: Yes

Sequence Viewer

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Publications / Origin

  1. Chen WD, Ren YX, Wang YJ, Xie WJ, Li J, Xu AP, Ji L, Compound Heterozygosity for an Unstable Novel Hemoglobin Variant, Hb Dongguan [α52(E1)Ser→Cys (TT>TT); : c.158C>G], and the - - (Southeast Asian) α-Thalassemia Deletion., Hemoglobin, 43(0), 286-288, 2019 PubMed
Created on 2020-01-17 12:28:29, Last reviewed on (Show full history)

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