IthaID: 185
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 82/83 (-G) | HGVS Name: | HBB:c.251delG |
| Hb Name: | N/A | Protein Info: | N/A |
Context nucleotide sequence:
CCTGGCTCACCTGGACAACCTCAAGG [-/G] CACCTTTGCCACACTGAGTGAGCT (Strand: -)
Also known as:
Comments: Found in an Azerbaijanian patient with β0-thalassaemia [PMID: 2525253]. Found in three different alleles of unrelated patients with β-thalassaemia major from Azerbaijan [PMID: 1483699]. Found in seven members of two families of Czech decent [PMID: 1740317]. Found in a Yugoslavian family of Croatian nationality with a heterozygosity for β-thalassaemia [PMID: 1517107]. The deletion of a nt G in codons 82/83 changes the reading frame with a stop codon at codon 88 resulting in a premature termination of translation.
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: | 70975 |
| 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: | Azerbaijanian, Czech, Croatian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
Sequence Viewer
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Frequencies
Publications / Origin
- Schwartz EI, Gol'tsov AA, Kaboev OK, Alexeev AA, Solovyev GYa , Surin VL, Lukianenko AV, Vinogradov SV, Berlin YuA , A novel frameshift mutation causing beta-thalassaemia in Azerbaijan., Nucleic acids research, 17(10), 3997, 1989 PubMed
- Indrak K, Brabec V, Indrakova J, Chrobak L, Sakalova A, Jarosova M, Cermak J, Fei YJ, Kutlar F, Gu YC, Molecular characterization of beta-thalassemia in Czechoslovakia., Human genetics, 88(4), 399-404, 1992 PubMed
- Cürük MA, Yüregir GT, Asadov CD, Dadasova T, Gu LH, Baysal E, Gu YC, Ribeiro ML, Huisman TH, Molecular characterization of beta-thalassemia in Azerbaijan., Human genetics, 90(4), 417-9, 1992 PubMed
- Jankovic L, Dimovski AJ, Efremov GD, Juricic D, A mutation of CDS 82/83 (-G) observed in a Yugoslavian family with a heterozygosity for beta-thalassemia., Hemoglobin, 16(4), 291-4, 1992 PubMed
Created on 2010-06-16 16:13:15,
Last reviewed on 2019-11-08 14:51:47 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:15 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:28:32 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2019-11-08 14:51:47 | The IthaGenes Curation Team | Reviewed. HGVS name, Context sequence, Location and dbSNP link corrected. Comment and Referenced added. |
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IthaGenes was last updated on 2023-03-22 16:46:31