IthaID: 2023



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 117 TTC>TCC [Phe>Ser] HGVS Name: HBA2:c.353T>C
Hb Name: Hb Foggia Protein Info: α2 117(GH5) Phe>Ser

Comments: Most likely the amino acid substitution impairs the interaction of the alpha-chain variant with the AHSP and prevents its stabilizing effect, thus leading to the alpha-chain pool reduction.

External Links

No available links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34387
Size: 1 bp
Located at: α2
Specific Location: Exon 3

Phenotype

Hemoglobinopathy Group: Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-thalassaemia, α-chain variant
Allele Phenotype:α⁺
Thalassaemia
Stability: Unstable
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: Italian
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Lacerra G, Scarano C, Musollino G, Flagiello A, Pucci P, Carestia C., Hb Foggia or alpha 117(GH5)Phe -> Ser: a new alpha 2 globin allele affecting the alpha Hb-AHSP interaction., Haematologia, 93(1), 141-2, 2008 PubMed
Created on 2010-10-16 11:51:11, Last reviewed on 2015-12-03 16:51:17 (Show full history)

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