IthaID: 828
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 7 (-GAG) [-Glu] | HGVS Name: | HBB:c.22_24delGAG |
| Hb Name: | Hb Leiden | Protein Info: | β7 (A4) Glu->0 |
Context nucleotide sequence:
CATGGTGCATCTGACTCCTGAG [GAG/-] AAGTCTGCCGTTACTGCCCTGT (Strand: -)
Also known as: Hb Xinyi
Comments: In a recent unpublish report, it was found in a 6-month-old male in compound heterozygosity with Hb Q-Thailand [IthaID: 607] with no clinical presentation.
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: | Decreased Oxygen Affinity |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70616 |
| Size: | 3 bp |
| Located at: | β |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Deletion) |
|---|---|
| Effect on Gene/Protein Function: | Insertion/Deletion of codons (Protein Structure) |
| Ethnic Origin: | American, Chinese, Mexican, Netherlands, South African, Yugoslavian, Dutch |
| 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
Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI.
Therefore, IthaGenes has no responsibility over any temporary unavailability of the service.
In such a case, please Refresh the page or retry at a later stage.
Otherwise, use this external link.
Publications / Origin
- De Jong WW, Went LN, Bernini LF, Haemoglobin Leiden: deletion of beta-6 or 7 glutamic acid., Nature, 220(5169), 788-90, 1968 PubMed
- Jongbloed W, van Twillert G, Schoorl M, Schindhelm RK, Unstable haemoglobin variant Hb Leiden is detected on Sysmex XN-Series analysers., Clin Chem Lab Med, 56(9), e249-e250, 2018 PubMed
Microattributions
| A/A | Contributor(s) | Date | Comments |
|---|---|---|---|
| 1 | Li, Youqiong | 2021-06-03 | Report of an update. |
Created on 2010-06-16 16:13:16,
Last reviewed on 2022-09-15 11:30:39 (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 | 2021-08-26 12:18:54 | The IthaGenes Curation Team | Reviewed. Common name corrected. Origin, protein function and reference added. |
| 4 | 2022-09-15 11:26:40 | The IthaGenes Curation Team | Reviewed. Contributor added. |
| 5 | 2022-09-15 11:30:39 | The IthaGenes Curation Team | Reviewed. Comment corrected. |
Disclaimer: The information on this website is provided as an information resource only
and must not to be used as a substitute for professional diagnosis and treatment.
The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment,
diagnosis or any other information, services or products that an individual obtains through this website.
IthaGenes was last updated on 2024-11-20 13:24:07