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
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
Sequence Viewer
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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 PubMed
Created on 2021-06-14 16:00:54,
Last reviewed on 2022-10-19 15:14:32 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2021-06-14 16:00:54 | The IthaGenes Curation Team | Created |
| 2 | 2021-06-14 16:30:00 | The IthaGenes Curation Team | Reviewed. Common name corrected. |
| 3 | 2022-10-19 15:14:32 | The IthaGenes Curation Team | Reviewed. Structural Hb type added. |
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IthaGenes was last updated on 2024-04-18 10:10:45