IthaID: 3969
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 44 TCC>TTC [Ser>Phe] | HGVS Name: | HBB:c.134C>T |
| Hb Name: | Hb Narges Lab | Protein Info: | β 44(CD3) Ser>Phe |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
CCTTGGACCCAGAGGTTCTTTGAGT [C/T] CTTTGGGGATCTGTCCACTCCTGAT (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFEFFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
Comments: Found in a case presented with no hematological abnormalities. The variant was predicted to be disease-causing in all except one in silico prediction tools.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-chain variant |
| Allele Phenotype: | N/A |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70858 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Persian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Hamid M, Shahbazi Z, Keikhaei B, Galehdari H, Saberi A, Sedaghat A, Shariati G, Mohammadi-Anaei M, Hb Narges Lab, a Novel Hemoglobin Variant of the β-Globin Gene., Arch Iran Med, 25(5), 339-342, 2022
Created on 2022-09-07 14:50:28,
Last reviewed on (Show full history)
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