IthaID: 1331

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 4 ACT>ATT [Thr>Ile] HGVS Name: HBD:c.14C>T
Hb Name: N/A Protein Info: delta 4(A1) Thr>Ile

Context nucleotide sequence:

Protein sequence:

Also known as: HbA2-Mitsero

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


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


Chromosome: 11
Locus: NG_000007.3
Locus Location: 63196
Size: 1 bp
Located at: δ
Specific Location: Exon 1

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. 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 PubMed
  2. Giambona A, Passarello C, Ruggeri G, Renda D, Teresi P, Anzà M, Maggio A, Analysis of delta-globin gene alleles in the Sicilian population: identification of five new mutations., Haematologica, 91(12), 1681-4, 2006 PubMed
  3. Lacerra G, Scarano C, Lagona LF, Testa R, Caruso DG, Medulla E, Friscia MG, Mastrullo L, Caldora M, Prezioso R, Gaudiano C, Magnano C, Romeo MA, Musollino G, Di Noce F, Carestia C, Genotype-phenotype relationship of the δ-thalassemia and Hb A(2) variants: observation of 52 genotypes., Hemoglobin, 34(5), 407-23, 2010 PubMed
  4. 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 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2023-01-27 11:53:50 (Show full history)

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