IthaID: 73
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 15 TGG>TGA | HGVS Name: | HBB:c.48G>A |
| Hb Name: | N/A | Protein Info: | β 15(A12) Trp>Stop |
Context nucleotide sequence:
AGAAGTCTGCCGTTACTGCCCTGTG [A/G] GGCAAGGTGAACGTGGATGAAGTTG (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALX
Also known as:
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: | 70642 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Nonsense codon (Translation) |
| Ethnic Origin: | Portuguese, Japanese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Frequencies
Publications / Origin
- Ribeiro ML, Baysal E, Kutlar F, Tamagnini GP, Gonçalves P, Lopes D, Huisman TH, A novel beta zero-thalassaemia mutation (codon 15, TGG----TGA) is prevalent in a population of central Portugal., British journal of haematology, 80(4), 567-8, 1992
- 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
Created on 2010-06-16 16:13:14,
Last reviewed on 2014-06-03 15:37:24 (Show full history)
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