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
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
Created on 2010-06-16 16:13:14,
Last reviewed on 2014-06-04 13:19:49 (Show full history)
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