IthaID: 356



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 29 CTG>CCG [Leu>Pro] HGVS Name: HBA2:c.89T>C
Hb Name: Hb Agrinio Protein Info: α2 29(B10) Leu>Pro

Context nucleotide sequence:
GCTGGCGAGTATGGTGCGGAGGCCC [C/T] GGAGAGGTGAGGCTCCCTCCCCTGC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEAPERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Comments: This mutation results in an α+ allele. The severe phenotype of homozygotes suggests that this variant is extremely unstable.

External Links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 33864
Size: 1 bp
Located at: α2
Specific Location: Exon 1

Phenotype

Hemoglobinopathy Group: Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-thalassaemia, α-chain variant
Allele Phenotype:α⁺
Stability: N/A
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: Greek, Mediterranean, Romani
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Frequencies

Publications / Origin

  1. Hall GW, Thein SL, Newland AC, Chisholm M, Traeger-Synodinos J, Kanavakis E, Kattamis C, Higgs DR, A base substitution (T-->C) in codon 29 of the alpha 2-globin gene causes alpha thalassaemia., British journal of haematology, 85(3), 546-52, 1993 PubMed
  2. Dimishkovska M, Kuzmanovska M, Kocheva S, Martinova K, Karanfilski O, Stojanoski Z, Plaseska-Karanfilska D, First Cases of Hb Agrinio Described in Patients from the Republic of Macedonia., Hemoglobin , 41(4), 308-310, 2017 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2018-01-25 16:44:08 (Show full history)

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