IthaID: 3722
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 86 GCC>GC- | HGVS Name: | HBB:c.261delC |
| Hb Name: | N/A | Protein Info: | N/A |
Context nucleotide sequence:
GGACAACCTCAAGGGCACCTTTGC [T/-] ACACTGAGTGAGCTGCACTGTGAC (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFAQX
Also known as:
Comments: Found in found in a 27-year old pregnant woman with reduced MCV 65 fL, MCH 21.4 pg and HbA 86.5% and increased HbA2 5.4%. Amniocentesis showed that the fetus was compound heterozygous for the novel deletion and the CD 41/42 (‐TTCT) [IthaID: 147], inherited from the father. The woman keeps the fetus and now child shows severe β‐thalassaemia phenotype and needs transfusion therapy every month. The T deletion, causing a frameshift that introduces a premature stop codon two amino acids further down the new reading frame.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia |
| Allele Phenotype: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70985 |
| 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: | Chinese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Zhang H, Li C, Li J, Hou S, Chen D, Yan H, Chen S, Liu S, Yin Z, Yang X, Tan J, Huang X, Zhang L, Fang J, Zhang C, Li W, Guo J, Lei D, Next-generation sequencing improves molecular epidemiological characterization of thalassemia in Chenzhou Region, P.R. China., J Clin Lab Anal, 33(4), e22845, 2019