IthaID: 161
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 53/54 (+G) | HGVS Name: | HBB:c.163dupG |
| Hb Name: | N/A | Protein Info: | β 54(+G); modified C-terminal sequence: (54)Gly-Tyr-Gly-Gln-(58)Pro-COOH |
Context nucleotide sequence:
TGGGGATCTGTCCACTCCTGATGCTG [-/G] TTATGGGCAACCCTAAGGTGAAGG (Strand: -)
Also known as:
Comments: The introduction of a nt G between codons 53 and 54 (GCTGTT>GCTGGTT) leads to a frameshift with a stop codon at codon 59 (TGA) and premature termination of translation.
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: | 70887 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Insertion) |
|---|---|
| Effect on Gene/Protein Function: | Frameshift (Translation) |
| Ethnic Origin: | Japanese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Frequencies
Publications / Origin
- Fucharoen S, Katsube T, Fucharoen G, Sawada H, Oishi H, Katsuno M, Nishimura J, Motomura S, Miura Y, Fukumaki Y, Molecular heterogeneity of beta-thalassaemia in the Japanese: identification of two novel mutations., British journal of haematology, 74(1), 101-7, 1990
Created on 2010-06-16 16:13:15,
Last reviewed on 2019-11-12 16:18:51 (Show full history)
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