IthaID: 734



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 124 TCC>CCC [Ser>Pro] HGVS Name: HBA2:c.373T>C
Hb Name: Hb Policoro Protein Info: α2 124(H7) Ser>Pro
Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

Context nucleotide sequence:
CGAGTTCACCCCTGCGGTGCACGCC [C/T] CCCTGGACAAGTTCCTGGCTTCTGT (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHAPLDKFLASVSTVLTSKYR

Comments: Identified in five unrelated families, with a total of 12 carriers. All probands exhibited mild microcythemia with normal iron metabolism and normal Hb A2 levels. No Hb variants were detected by cation-exchange HPLC or cellulose acetate electrophoresis. However, the presence of inclusion bodies and a positive isopropanol instability test indicate the existence of an unstable hemoglobin.

External Links

Phenotype

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

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34407
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: Southern Italian
Molecular mechanism: Altered secondary structure
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Bisconte MG, Caldora M, Musollino G, Cardiero G, Flagiello A, La Porta G, Lagona L, Prezioso R, Qualtieri G, Gaudiano C, Medulla E, Merlino A, Pucci P, Lacerra G, α-Thalassemia associated with hb instability: a tale of two features. the case of Hb Rogliano or α1 Cod 108(G15)Thr→Asn and Hb Policoro or α2 Cod 124(H7)Ser→Pro., PLoS ONE , 10(3), e0115738, 2015 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2025-02-14 09:07:00 (Show full history)

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