IthaID: 2991
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 108 ACC>AAC [Thr>Asn] | HGVS Name: | HBA1:c.326C>A |
| Hb Name: | Hb Rogliano | Protein Info: | α1 108(G15) Thr>Asn |
Context nucleotide sequence:
CTAAGCCACTGCCTGCTGGTGA [C>A] CCTGGCCGCCCACCTCCCCGCCGAGT (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVNLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as:
Comments: Found as a heterozygote with mild α-thalassaemia phenotype, microcytosis and abnormal haemoglobin stability features. Hb Rogliano showed an intrinsic instability of the tetramer due to anomalous intra- and inter-chain interactions suggesting that the variant chain is normally synthesized and complexed with AHSP but rapidly degraded because it is unable to form the α1β1 dimers.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | α-chain variant |
| Allele Phenotype: | N/A |
| Stability: | Hyperunstable |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 34360 |
| Size: | 1 bp |
| Located at: | α1 |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Italian, Iranian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- 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
- Farashi S, Vakili S, Garous NF, Ashki M, Forouzesh Pour F, Zeinali F, Rad F, Imanian H, Azarkeivan A, Najmabadi H, Identification of Mutations Causing Aberrant Termination and Deficient Splice Donor Site on the HBA1 Gene., Hemoglobin , 40(1), 38-43, 2016