IthaID: 3571
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 50 ACT>GCT [Thr>Ala] | HGVS Name: | HBB:c.151A>G |
| Hb Name: | N/A | Protein Info: | N/A |
Context nucleotide sequence:
CTTTGAGTCCTTTGGGGATCTGTCC [A>G] CTCCTGATGCTGTTATGGGCAACCC (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSAPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
Also known as:
Comments: Reported in a heterozygous state in one individual with 3.5% HbA2 (MCV < 80 fL and MCH < 27 pg) during a carrier screening programme.
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: | 70875 |
| 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: | Bangladeshi |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Frequencies
Publications / Origin
- Noor FA, Sultana N, Bhuyan GS, Islam MT, Hossain M, Sarker SK, Islam K, Khan WA, Rahman M, Qadri SK, Shekhar HU, Qadri F, Qadri SS, Mannoor K, Nationwide carrier detection and molecular characterization of β-thalassemia and hemoglobin E variants in Bangladeshi population., Orphanet J Rare Dis, 15(1), 15, 2020
Created on 2020-02-12 11:42:24,
Last reviewed on (Show full history)
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