IthaID: 3651
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 117 CAC>CAG [His>Gln] | HGVS Name: | HBB:c.354C>G |
| Hb Name: | Hb Murcia | Protein Info: | β 118(G19) His>Gln |
Context nucleotide sequence:
TGCTGGTCTGTGTGCTGGCCCATCA [C/G] TTTGGCAAAGAATTCACCCCACCAG (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHQFGKEFTPPVQAAYQKVVAGVANALAHKYH
Also known as:
Comments: Found in a 72-year-old female presented with normal haematological findings. HPLC analysis shown an abnormal band of 37.3%.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-chain variant |
| Allele Phenotype: | N/A |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 71928 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 3 |
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
- Fernández BG, Campuzano JBN, Rocamora DG, Nieto JM, Fernández FAG, Villegas A, Cuesta CB, Ropero P, Hb Murcia (β118(G19)His>Gln): A New Hemoglobin Variant Found in a Spanish Woman., Ann Lab Med, 41(5), 514-517, 2021
Created on 2020-10-12 11:07:47,
Last reviewed on 2022-07-12 11:45:44 (Show full history)
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