IthaID: 566


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 56 AAG>ACG [Lys>Thr] HGVS Name: HBA1:c.170A>C
Hb Name: Hb Thailand Protein Info: α1 56(E5) Lys>Thr

Context nucleotide sequence:
CTGAGCCACGGCTCTGCCCAGGTTA [A/C] GGGCCACGGCAAGAAGGTGGCCGAC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVTGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-chain variant
Allele Phenotype:N/A
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: N/A

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 37866
Size: 1 bp
Located at: α1
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Thai
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

Publications / Origin

  1. Pootrakul S, Boonyarat D, Kematorn B, Suanpan S, Wasi P, Hemoglobin Thailand [alpha 56 (E 5) Lys leads to Thr]: a new abnormal human hemoglobin., Hemoglobin , 1(8), 781-98, 1977
  2. Singha K, Srivorakun H, Fucharoen G, Changtrakul Y, Komwilaisak P, Jetsrisuparb A, Puangplruk R, Fucharoen S, Association of Hb Thailand [α56(E5)Lys→Thr] and Hb Phnom Penh [α117(GH5)-Ile-α118(H1)] with α(0)-thalassemia: molecular and hematological features and differential diagnosis., Hemoglobin , 37(1), 37-47, 2013
Created on 2010-06-16 16:13:15, Last reviewed on 2021-04-07 11:04:27 (Show full history)

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