IthaID: 872
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 22-26 (-12bp) | HGVS Name: | HBB:c.69_80delAGTTGGTGGTGA |
| Hb Name: | Hb Olinda | Protein Info: | β 22(B4) - 25(B7) Glu-Val-Gly-Gly->0 |
Context nucleotide sequence:
CCTGTGGGGCAAGGTGAACGTGGATGA [-/GAAGTTGG] GGCCCTGGGCAGGTTGGTATCAAG (Strand: -)
Also known as:
Comments: Found as a de novo variant in a proband from the State of Pernambuco, NE Brazil. Substitutions at codons 23 and 24, which are inside the haemoglobin molecule, lead to the production of variants with altered stability and function, presenting with haemolytic anaemia. Reported in literature as HBB:c.67_78delGAAGTTGGTGGT, which does not follow the HGVS Sequence Variant Nomeclature guidelines.
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: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70663 |
| Size: | 12 bp |
| Located at: | β |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Frameshift (Translation) |
| Ethnic Origin: | Brazilian |
| 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
- Bezerra MA, Albuquerque DM, Santos MN, Kimura EM, Jorge SE, Oliveira DM, Domingues BL, Peres JC, Araújo AS, Costa FF, Sonati MF, Two new unstable haemoglobins leading to chronic haemolytic anaemia: Hb Caruaru [beta122 (GH5) Phe-->Ser], a probable case of germ line mutation, and Hb Olinda [beta22 (B4) - 25 (B7)], a deletion of a 12 base-pair sequence., European journal of haematology, 83(4), 378-82, 2009 PubMed
Created on 2010-06-16 16:13:16,
Last reviewed on 2019-11-11 11:04:45 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:16 | The IthaGenes Curation Team | Created |
| 2 | 2014-01-10 11:22:50 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2019-11-11 11:03:19 | The IthaGenes Curation Team | Reviewed. Mutation names and info (all fields) and Location corrected. dbSNP removed. Comment added. |
| 4 | 2019-11-11 11:04:45 | The IthaGenes Curation Team | Reviewed. dbSNP link added. |
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IthaGenes was last updated on 2024-04-18 10:10:45