IthaID: 4104
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 147 TAA>ΑAC [Stop>Tyr] | HGVS Name: | HBB:c.444A>C |
| Hb Name: | N/A | Protein Info: | β 147, Stop>Tyr; modified C-terminal sequence: (147)Tyr-Ala-Arg-Phe-Leu-Ala-Val-Gln-Phe-Leu-Leu- Lys-Val-Pro-Leu-Phe-Pro-Lys-Ser-Asn-(167)Tyr-COOH |
Context nucleotide sequence:
AATGCCCTGGCCCACAAGTATCACTA [A/C] GCTCGCTTTCTTGCTGTCCAATTTCT (Strand: -)
Also known as:
Comments: Reported as a de novo mutation in a 2-month-old infant girl, presented with persistent jaundice and failure to thrive. The infant was diagnosed with β-thalassemia. This mutation results in a stop-codon substitution to a tyrosine residue and an increase of 21 amino-acids in the β-globin chain that probably makes the protein unstable. Leads to a dominant beta-thalassemia state according to this case report.
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: | 72018 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Nonsense codon (Translation) |
| Ethnic Origin: | Danish |
| Molecular mechanism: | N/A |
| Inheritance: | Dominant |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Ravichandran S, Hoffmann M, Petersen J, Sjø L, Rasmussen AØ, Eidesgaard A, Glenthøj A, A Rare Case of Beta-Thalassemia Diagnosed by Whole-Genome Sequencing in an Ethnically Danish Newborn., Hemoglobin, 2024
Created on 2024-07-23 16:18:31,
Last reviewed on 2024-07-23 16:21:36 (Show full history)
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