IthaID: 855
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 17-19 (-GGTGAA) | HGVS Name: | HBB:c.54_59del |
| Hb Name: | Hb Lyon | Protein Info: | β 17(A14) - 18(A15) Lys-Val->0 |
Context nucleotide sequence:
AGTCTGCCGTTACTGCCCTGTGGGGCAA [-/GGTGAA] CGTGGATGAAGTTGGTGGTGAGGCCC (Strand: -)
Also known as:
Comments: Haemoglobin Lyon has deletions of residues β17 lysine (A 14) and β18 valine (A 15). Found in a proband of Spanish and North African descend. Stability tests revealed a slightly decreased heat stability.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-chain variant |
| Allele Phenotype: | N/A |
| Stability: | Unstable |
| Oxygen Affinity: | Increased Oxygen Affinity |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70648 |
| Size: | 6 bp |
| Located at: | β |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Deletion) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | French, Spanish, North African |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
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
- Cohen-Solal M, Blouquit Y, Garel MC, Thillet J, Gaillard L, Creyssel R, Gibaud A, Rosa J, Haemoglobin Lyon (beta17-18 (A 14-15) Lys-Val leads to O). Determination by sequenator analysis., Biochimica et biophysica acta, 351(2), 306-16, 1974 PubMed
Created on 2010-06-16 16:13:16,
Last reviewed on 2019-11-07 12:06:53 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:16 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2019-11-07 12:06:53 | The IthaGenes Curation Team | Reviewed. Common name, HGVS name, Allele and Context sequence, and Location corrected. Comment added. |
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IthaGenes was last updated on 2024-11-20 13:24:07