IthaID: 3864
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 116 GAG>TAG [Glu>Stop] | HGVS Name: | HBA1:c.349G>T |
| Hb Name: | N/A | Protein Info: | α1 116(GH4) Glu>STOP |
Context nucleotide sequence:
GACCCTGGCCGCCCACCTCCCCGCC [G>T] AGTTCACCCCTGCGGTGCACGCCTC (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAX
Also known as:
Comments: Found in a newborn through a thalassaemia screening program performing genetic testing by next-generation sequencing and gap-polymerase chain reaction. At 2-year-old the proband presented with abnormal hematological indices.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | α⁺ |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 38194 |
| Size: | 1 bp |
| Located at: | α1 |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Nonsense codon (Translation) |
| Ethnic Origin: | Chinese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Yin Z, Hao Y, Huang X, Chen X, Chen S, Li G, Chen C, Wei F, A Novel Mutation at HBA1:c.349G>T Causing α-Thalassemia in a Chinese Family., Hemoglobin, 45(2), 94-96, 2021
Created on 2021-09-30 08:40:16,
Last reviewed on 2022-08-24 09:28:04 (Show full history)
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