IthaID: 2358

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 71 GCG>GTG [Ala>Val] HGVS Name: HBA1:c.215C>T
Hb Name: Hb Allison Park Protein Info: α1 71(E20) Ala>Val

Context nucleotide sequence:

Protein sequence:

Also known as: Hb Ozieri

Comments: Initially reported as a silent Hb variant in five apparently unrelated newborn babies in Sardinia. It was detected by IEF and characterized by protein analysis as an Ala>Val change at position 71 of α-chain (α1 or α2). It was named Hb Ozieri. This substitution indicates a C to T transition in the GCG codon for Ala which contains one of the 35 unmethylated CpG dinucleotides of the α-globin gene. A later entry in a public database reports a cod71 GCG>GTG change in the α1 gene with the Hb variant named Hb Allison Park.

We follow the HGVS sequence variant nomenclature and IUPAC standards.


Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-chain variant
Allele Phenotype:N/A
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: N/A


Chromosome: 16
Locus: NG_000006.1
Locus Location: 37911
Size: 1 bp
Located at: α1
Specific Location: Exon 2

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Ferranti P, Parlapiano A, Malorni A, Pucci P, Marino G, Cossu G, Manca L, Masala B, Hemoglobin Ozieri: a new alpha-chain variant (alpha 71(E20)Ala-->Val). Characterization using FAB- and electrospray-mass spectrometric techniques., Biochim. Biophys. Acta , 1162(1), 203-8, 1993 PubMed
Created on 2014-05-23 11:26:19, Last reviewed on 2023-04-28 10:18:06 (Show full history)

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