IthaID: 95
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 28/29 (-G) | HGVS Name: | HBB:c.89delG |
| Hb Name: | N/A | Protein Info: | N/A |
Context nucleotide sequence:
GATGAAGTTGGTGGTGAGGCCCTGG [-/G] CAGGTTGGTATCAAGGTTACAAGA (Strand: -)
Also known as:
Comments: Found in four members of a family from Japan. Found in four different alleles of unrelated patients from Egypt.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia |
| Allele Phenotype: | β0 |
| Associated Phenotypes: |
Haemolytic anaemia [HP:0001878] Ineffective erythropoiesis [HP:0010972] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70683 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Deletion) |
|---|---|
| Effect on Gene/Protein Function: | Frameshift (Translation) |
| Ethnic Origin: | Japanese, Egyptian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Frequencies
Publications / Origin
- Ohba Y, Hattori Y, Harano T, Harano K, Fukumaki Y, Ideguchi H, beta-thalassemia mutations in Japanese and Koreans., Hemoglobin, 21(2), 191-200, 1997
- el-Hashemite N, Petrou M, Khalifa AS, Heshmat NM, Rady MS, Delhanty JD, Identification of novel Asian Indian and Japanese mutations causing beta-thalassaemia in the Egyptian population., Human genetics, 99(2), 271-4, 1997
Created on 2010-06-16 16:13:14,
Last reviewed on 2019-11-11 11:09:09 (Show full history)
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