IthaID: 128
Names and Sequences
Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
---|---|---|---|
Common Name: | CD 36 CCT>C-T | HGVS Name: | HBB:c.110del |
Hb Name: | N/A | Protein Info: | N/A |
Context nucleotide sequence:
CCACCCTTAGGCTGCTGGTGGTCTACC [-/C] TTGGACCCAGAGGTTCTTTGAGT (Strand: -)
Also known as: CD 36 (-C)
Comments: Loss of nt C between codons 35 and 36 generates a frameshift with a nonsense codon at codon 60 (TGA) terminating 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: | 70834 |
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: | Malay, Chinese |
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
- Yang KG, Kutlar F, George E, Wilson JB, Kutlar A, Stoming TA, Gonzalez-Redondo JM, Huisman TH, Molecular characterization of beta-globin gene mutations in Malay patients with Hb E-beta-thalassaemia and thalassaemia major., British journal of haematology, 72(1), 73-80, 1989 PubMed
- Huang H, Xu L, Lin N, He D, Li Y, Guo D, Wang L, Wang Y, Zhen L, Xu J, Lin Y, Molecular spectrum of β-thalassemia in Fujian Province, Southeastern China., Hemoglobin , 37(4), 343-50, 2013 PubMed
Created on 2010-06-16 16:13:14,
Last reviewed on 2023-02-23 11:38:12 (Show full history)
A/A | Date | Curator(s) | Comments |
---|---|---|---|
1 | 2010-06-16 16:13:14 | The IthaGenes Curation Team | Created |
2 | 2013-10-15 17:28:32 | The IthaGenes Curation Team | Reviewed. |
3 | 2019-11-06 17:44:26 | The IthaGenes Curation Team | Reviewed. Common name, HGVS name, Context sequence and Location corrected. Comment added. |
4 | 2023-02-23 11:38:12 | The IthaGenes Curation Team | Reviewed. Reference and Synonym name aded added. Ethnic origin field updated |
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IthaGenes was last updated on 2024-10-30 08:58:42