IthaID: 4142
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 61 AAG>CAG [Lys>Gln] | HGVS Name: | HBA1:c.184A>C |
| Hb Name: | Hb Romagna | Protein Info: | α1 61(E10) Lys>Gln |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
TCTGCCCAGGTTAAGGGCCACGGCAAG [A>C] AGGTGGCCGACGCGCTGACCAACGCC (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKQVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Comments: The c.184A>C [p.Lys62Gln] variant is located in exon 2 of the HBA1 gene. It was incidentally identified in a 58-year-old diabetic woman in the heterozygous state, alongside the HBD variant Hb A2-Lampang [IthaID: 3317]. She exhibited normochromic normocytosis with Hb 14.4 g/dL, MCH 27.6 pg, PCV 0.427 L/L, RBC 5.22 × 10^12/L, and HbX 18.6% of total Hb, . The abnormal Hb variant (HbX) was detected by capillary electrophoresis.
External Links
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: | 37880 |
| 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: | Italian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Sequence Viewer
Publications / Origin
To the best of our knowledge, this is unpublished data. Please use with caution!