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:
GCCGACGCGCTGACCAACGCCGTGG [C>T] GCACGTGGACGACATGCCCAACGCG (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVVHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
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.
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | α-chain variant |
| Allele Phenotype: | N/A |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| 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
Publications / Origin
- 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
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2014-05-23 11:26:19 | The IthaGenes Curation Team | Created |
| 2 | 2023-04-28 10:15:51 | The IthaGenes Curation Team | Reviewed. Reference, Links and Comment added. |
| 3 | 2023-04-28 10:18:06 | The IthaGenes Curation Team | Reviewed. Comment edits |