IthaID: 170

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 60 GTG>GAG [Val>Glu] HGVS Name: HBB:c.182T>A
Hb Name: Hb Cagliari Protein Info: β 60(E4) Val>Glu

Context nucleotide sequence:

Protein sequence:

Also known as:

Comments: β60 valine (non-polar) to glutamine (polar) causes an ineffective erythropoiesis and thalassaemia intermedia.

External Links


Hemoglobinopathy Group: Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-thalassaemia, β-chain variant
Allele Phenotype:Thalassaemia dominant
Stability: Unstable
Oxygen Affinity: N/A
Associated Phenotypes: Haemolytic anaemia [HP:0001878]
Ineffective erythropoiesis [HP:0010972]


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70906
Size: 1 bp
Located at: β
Specific Location: Exon 2

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Podda A, Galanello R, Maccioni L, Melis MA, Rosatelli C, Perseu L, Cao A, Hemoglobin Cagliari (beta 60 [E4] Val----Glu): a novel unstable thalassemic hemoglobinopathy., Blood, 77(2), 371-5, 1991 PubMed
  2. Thein SL, Dominant beta thalassaemia: molecular basis and pathophysiology., Br J Haematol, 80(3), 273-7, 1992 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2022-11-30 12:58:47 (Show full history)

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