IthaID: 3788
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 65 GCG>CCG [Ala>Pro] | HGVS Name: | HBA1:c.196G>C |
| Hb Name: | Hb Maruchi | Protein Info: | α1 65(E14) Ala>Pro |
Context nucleotide sequence:
CACGGCAAGAAGGTGGCCGAC [G/C] CGCTGACCAACGCCGTGGCGC (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADPLTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as:
Comments: Found in a 37-year-old Spanish male presented with microcytosis. The new variant cannot be separated from Hb A by electrophoretic and chromatographic techniques and causes α-thalassemia silent associated with a very mild phenotype. Hb Maruchi is a new silent variant and authors believe that it is a hyperunstable protein.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia and Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia, α-chain variant |
| Allele Phenotype: | α⁺ Silent Hb |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 37892 |
| 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: | Spanish |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Paloma Ropero, Jorge M Nieto, Fernando-Ataúlfo González Fernández, Ana Villegas, Celina Benavente, Hb Maruchi [α165 (E14) Ala>Pro; HBA1: c.196G>C]: A new thalassemia hemoglobinopathy related to the alpha1 globin gene, Clin Biochem, 2021