IthaID: 3980
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 141 CTG>CCG [Leu>Pro] | HGVS Name: | HBB:c.425T>C |
| Hb Name: | Hb Yoshkar-Ola | Protein Info: | β 141(H19) Leu>Pro |
Context nucleotide sequence:
GTGGTGGCTGGTGTGGCTAATGCCC [T>C] GGCCCACAAGTATCACTAAGCTCGC (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANAPAHKYH
Also known as:
Comments: Found in a heterozgyous state. Hb levels of 5.9-7.1 g/dL. The patient is 8-year-old boy with severe hemolytic anemia from the age of 4 months. The boy has blood transfusions every 2-3 months and secondary cardiomyopathy due to severe hemolytic anemia. Splenectomy was performed at 4 years old. Hb variant cannot be separated by capillary electrophoresis or RP-HPLC.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia and Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia, β-chain variant |
| Allele Phenotype: | Thalassaemia dominant Dominant |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 71999 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | N/A |
| Molecular mechanism: | N/A |
| Inheritance: | Dominant |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
To the best of our knowledge, this is unpublished data. Please use with caution!