
IthaID: 179
Names and Sequences
Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
---|---|---|---|
Common Name: | CD 75 (-C) | HGVS Name: | HBB:c.226delC |
Hb Name: | N/A | Protein Info: | N/A |
Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
GTGCTCGGTGCCTTTAGTGATGGC [C/-] TGGCTCACCTGGACAACCTCAAGG (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGWLTWTTSRAPLPHX
Comments: The T deletion at codon 75, creating a change in the reading frame that results in a premature termination of translation because of a stop codon at codon 88 (TGA).
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: | 70950 |
Size: | 1 bp |
Located at: | β |
Specific Location: | Exon 2 |
Other details
Type of Mutation: | Point-Mutation(Deletion) |
---|---|
Effect on Gene/Protein Function: | Frameshift (Translation) |
Ethnic Origin: | Turkish |
Molecular mechanism: | N/A |
Inheritance: | Recessive |
DNA Sequence Determined: | No |
In silico pathogenicity prediction
Frequencies
Publications / Origin
- Başak AN, Ozçelik H, Ozer A, Tolun A, Aksoy M, Ağaoğlu L, Ridolfi F, Ulukutlu L, Akar N, Gürgey A, The molecular basis of beta-thalassemia in Turkey., Human genetics, 89(3), 315-8, 1992
- Başak AN, Ozer A, Ozçelik H, Kirdar B, Gürgey A, A novel frameshift mutation: deletion of C in codons 74/75 of the beta-globin gene causes beta zero-thalassemia in a Turkish patient., Hemoglobin, 16(4), 309-12, 1992
Created on 2010-06-16 16:13:15,
Last reviewed on 2021-04-08 12:55:21 (Show full history)
Disclaimer: The information on this website is provided as an information resource only
and must not to be used as a substitute for professional diagnosis and treatment.
The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment,
diagnosis or any other information, services or products that an individual obtains through this website.