IthaID: 1332


Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 27 GCC>TCC [Ala>Ser] HGVS Name: HBD:c.82G>T
Hb Name: Hb A2-Yialousa Protein Info: δ 27(B9) Ala>Ser

Context nucleotide sequence:
GAACGTGGATGCAGTTGGTGGTGAG [G/T] CCCTGGGCAGGTTGGTATCAAGGTT (Strand: -)

Protein sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGESLGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 63264
Size: 1 bp
Located at: δ
Specific Location: Exon 1

Phenotype

Hemoglobinopathy Group: Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: δ-thalassaemia, δ-chain variant
Allele Phenotype:δ+
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: N/A

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Greek, Greek Cypriot, Sardinian, Chinese
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Frequencies

Publications / Origin

  1. Moi P, Paglietti E, Sanna A, Brancati C, Tagarelli A, Galanello R, Cao A, Pirastu M, Delineation of the molecular basis of delta- and normal HbA2 beta-thalassemia., Blood, 72(2), 530-3, 1988
  2. Loudianos G, Cao A, Ristaldi MS, Pirastu M, Tzeti M, Kannavakis E, Kattamis C, Molecular basis of delta beta-thalassemia with normal fetal hemoglobin level., Blood , 75(2), 526-8, 1990
  3. Trifillis P, Ioannou P, Schwartz E, Surrey S, Identification of four novel delta-globin gene mutations in Greek Cypriots using polymerase chain reaction and automated fluorescence-based DNA sequence analysis., Blood, 78(12), 3298-305, 1991
  4. Trifillis P, Kyrri A, Kalogirou E, Kokkofitou A, Ioannou P, Schwartz E, Surrey S, Analysis of delta-globin gene mutations in Greek cypriots., Blood, 82(5), 1647-51, 1993
  5. De Angioletti M, Lacerra G, Gaudiano C, Mastrolonardo G, Pagano L, Mastrullo L, Masciandaro S, Carestia C, Epidemiology of the delta globin alleles in southern Italy shows complex molecular, genetic, and phenotypic features., Human mutation, 20(5), 358-67, 2002
  6. Liu N, Xie XM, Zhou JY, Li R, Liao C, Li DZ, Analysis of δ-globin gene mutations in the Chinese population., Hemoglobin , 37(1), 85-93, 2013
Created on 2010-06-16 16:13:17, Last reviewed on 2017-07-11 16:45:40 (Show full history)

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