IthaID: 2023


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
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

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAESTPAVHASLDKFLASVSTVLTSKYR

Also known as:

Comments: Replacement of Phe residue at position α117 (GH5) by a charged arginine residue, which disrturbs the α1β1 contact and also impairs interaction with AHSP, thus leading to the α chain pool reduction and to the α-thalassemia phenotype. No unstable haemoglobins and no erythrocyte inclusion bodies have been documented. Detected in a family from Foggia, Southern Italy, with α-thalassemia haematologic phenotype (microcythemia).

External Links

No available links

Phenotype

Hemoglobinopathy Group: Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-thalassaemia, α-chain variant
Allele Phenotype:α⁺
Thalassaemia
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: Haemolytic anaemia [HP:0001878]

Location

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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Italian
Molecular mechanism: Altered α1β1 interface
Inheritance: Recessive
DNA Sequence Determined: Yes

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
  2. Thom CS, Dickson CF, Gell DA, Weiss MJ, Hemoglobin variants: biochemical properties and clinical correlates., Cold Spring Harb Perspect Med, 3(3), a011858, 2013
Created on 2010-10-16 11:51:11, Last reviewed on 2019-06-20 16:40:29 (Show full history)

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