IthaID: 3598
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 93/94 (-TG) [Cys>STOP] | HGVS Name: | HBD:c.282_283delTG |
| Hb Name: | N/A | Protein Info: | p.Cys93Stop |
Context nucleotide sequence:
TTTTTCTCAGCTGAGTGAGCTGCACTG [TG/-] ACAAGCTGCACGTGGATCCTGA (Strand: -)
Protein sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHX
Also known as:
Comments: Found in a 38-years old pregnant Spanish woman with normal clinical presentation. The 2-bp deletion creates a premature stop codon at the 93 amino acid. Hb X was not visible using HPLC but HbA2 was slightly low (1.3%).
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | N/A |
| Allele Phenotype: | δ0 |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 63592 |
| Size: | 2 bp |
| Located at: | δ |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Deletion) |
|---|---|
| Effect on Gene/Protein Function: | Nonsense codon (Translation) |
| Ethnic Origin: | Spanish |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
To the best of our knowledge, this is unpublished data. Please use with caution!
Created on 2020-06-30 15:04:19,
Last reviewed on 2020-06-30 15:06:06 (Show full history)
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