IthaID: 125
Names and Sequences
Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
---|---|---|---|
Common Name: | CD 30/31 +CGG [+Arg] | HGVS Name: | HBB:c.93_94insCGG |
Hb Name: | N/A | Protein Info: | Arg- inserted between codons 30(B12) and 31(B13) of β |
Context nucleotide sequence:
ATTGGTCTATTTTCCCACCCTTAGG [-/CGG] CTGCTGGTGGTCTACCCTTGGACCC (Strand: -)
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
Hemoglobinopathy Group: | Thalassaemia and Structural Haemoglobinopathy |
---|---|
Hemoglobinopathy Subgroup: | β-thalassaemia, β-chain variant |
Allele Phenotype: | β0 Dominant |
Stability: | Unstable |
Oxygen Affinity: | N/A |
Associated Phenotypes: |
Haemolytic anaemia [HP:0001878] Ineffective erythropoiesis [HP:0010972] |
Location
Chromosome: | 11 |
---|---|
Locus: | NG_000007.3 |
Locus Location: | 70817 |
Size: | 3 bp |
Located at: | β |
Specific Location: | Exon 2 |
Other details
Type of Mutation: | Point-Mutation(Insertion) |
---|---|
Effect on Gene/Protein Function: | Insertion/Deletion of codons (Protein Structure) |
Ethnic Origin: | Spanish |
Molecular mechanism: | N/A |
Inheritance: | Dominant |
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
- Arjona SN, Eloy-Garcia JM, Gu LH, Smetanina NS, Huisman TH, The dominant beta-thalassaemia in a Spanish family is due to a frameshift that introduces an extra CGG codon ( = arginine) at the 5' end of the second exon., British journal of haematology, 93(4), 841-4, 1996 PubMed
Created on 2010-06-16 16:13:14,
Last reviewed on 2014-06-04 13:19:49 (Show full history)
A/A | Date | Curator(s) | Comments |
---|---|---|---|
1 | 2010-06-16 16:13:14 | The IthaGenes Curation Team | Created |
2 | 2013-10-15 17:28:32 | The IthaGenes Curation Team | Reviewed. |
3 | 2014-06-04 13:19:10 | The IthaGenes Curation Team | Reviewed. External links added. |
4 | 2014-06-04 13:19:49 | The IthaGenes Curation Team | Reviewed. OMIM link corrected. |
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IthaGenes was last updated on 2024-10-30 08:58:42