IthaID: 3798
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 69 GGT>TGT [Gly>Cys] | HGVS Name: | HBB:c.208G>T |
| Hb Name: | Hb Miguel Servet | Protein Info: | β 69(E13) Gly>Cys |
Context nucleotide sequence:
GAAGGCTCATGGCAAGAAAGTGCTC [G>T] GTGCCTTTAGTGATGGCCTGGCTCA (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLCAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
Also known as:
Comments: Found in an 8-month-old Spanish girl and her mother. The Hb variant detected by CE-HPLC newborn (BioRad), by CZE and by CE-HPLC-CE Tosoh G8-2 (Horiba), but no by CE-HPLC-CE β-thalassaemia short programme (BioRad).
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: | 70932 |
| Size: | 1 bp |
| Located at: | β |
| 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
- Recasens V, Montañés Á, Rodríguez-Vigil C, González Y, Hernández de Abajo G, Nieto JM, González Fernández B, González-Fernández FA, Villegas A, Benavente C, Ropero P, Why is the novel Hb Miguel Servet visualised by CE-HPLC newborn and not by the CE-HPLC β-thalassaemia programme?, J Clin Pathol, 74(3), 198-201, 2021
Created on 2021-06-14 16:00:54,
Last reviewed on 2022-10-19 15:14:32 (Show full history)
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