IthaID: 398
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 109 (-C) | HGVS Name: | HBA1:c.328delC |
| Hb Name: | Hb Sciacca | Protein Info: | N/A |
Context nucleotide sequence:
CTAAGCCACTGCCTGCTGGTGACC [C/-] TGGCCGCCCACCTCCCCGCCGAGT (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTWPPTSPPSSPLRCTPPWTSSWLL*
Also known as:
Comments: Reported in literature as CD 108 (-C), which does not follow the HGVS Sequence Variant Nomenclature recommendations. The C deletion at codon 109, results in a frameshift, that gives rise to a premature stop codon at position 132 leading to a truncated protein. An update report revealed no abnormal band by HPLC and electrophoresis. However, both qualitative and semiquantitative analyses of the mRNA from a Sicilian patient’s reticulocytes revealed a decrease in mutant mRNA constituted 15% (Hb Sciacca) of total α1-globin mRNA. The analyses of the 3D models indicate that the Hb Sciacca is unstable. In a different report, the C deletion found in compound heterozygosity with --MED I (IthaID: 312), leading to Hb H disease.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia and Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia, 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: | 34362 |
| Size: | 1 bp |
| Located at: | α1 |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Deletion) |
|---|---|
| Effect on Gene/Protein Function: | Frameshift (Translation) |
| Ethnic Origin: | Jewish, African, Egyprtian, Cypriot, Sicilian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Sequence Viewer
Publications / Origin
- Oron-Karni V, Filon D, Shifrin Y, Fried E, Pogrebijsky G, Oppenheim A, Rund D, Diversity of alpha-globin mutations and clinical presentation of alpha-thalassemia in Israel., American journal of hematology, 65(3), 196-203, 2000 PubMed
- Henderson SJ, Timbs AT, McCarthy J, Gallienne AE, Proven M, Rugless MJ, Lopez H, Eglinton J, Dziedzic D, Beardsall M, Khalil MS, Old JM, Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations., Hemoglobin , 40(2), 75-84, 2016 PubMed
- Cardiero G, Musollino G, Prezioso R, Lacerra G, mRNA Analysis of Frameshift Mutations with Stop Codon in the Last Exon: The Case of Hemoglobins Campania [α1 cod95 (-C)] and Sciacca [α1 cod109 (-C)]., Biomedicines, 9(10), , 2021 PubMed
Microattributions
| A/A | Contributor(s) | Date | Comments |
|---|---|---|---|
| 1 | Petrou, Miranda | 2022-10-03 | Report of an update. |
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:15 | The IthaGenes Curation Team | Created |
| 2 | 2014-01-22 18:02:11 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2016-01-12 17:11:30 | The IthaGenes Curation Team | Reviewed. |
| 4 | 2016-01-12 17:23:05 | The IthaGenes Curation Team | Reviewed. |
| 5 | 2016-01-12 17:27:07 | The IthaGenes Curation Team | Reviewed. |
| 6 | 2017-05-03 11:46:43 | The IthaGenes Curation Team | Reviewed. |
| 7 | 2020-09-15 15:43:46 | The IthaGenes Curation Team | Reviewed. HGVS and common name corrected. Reference added. |
| 8 | 2022-10-04 09:52:54 | The IthaGenes Curation Team | Reviewed. Contributor and comment added. |
| 9 | 2024-02-22 09:30:14 | The IthaGenes Curation Team | Reviewed. Haemoglobinopathy, Allele Phenotype, Publication, Origin and ClinVar link added. Comment edited. |