IthaID: 3978
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs772591609 | HGVS Name: | NC_000019.10:g.19465364C>T, NC_000019.10(NM_017660.5):c.19C>T |
Context nucleotide sequence:
ACCGAAGAAGCATGC [C>T] GAACACGGAGTCAGA (Strand: +)
Protein sequence:
MTEEAC*
Also known as: p.Arg7Ter
Comments: Reported in a heterozygous state in an young adult with Hb E/β0 thalassemia, presenting with 83 g/l Hb and 42.1% HbF. Clinically diagnosed as thalassemia intermedia.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Allele Phenotype (Cis): | N/A |
|---|---|
| Allele Phenotype (Trans): | N/A |
| Associated Phenotypes: | Hb F levels [HP:0011904] [OMIM:141749] |
Location
| Chromosome: | 19 |
|---|---|
| Locus: | NM_001384528.1 |
| Locus Location: | N/A |
| Size: | 1 bp |
| Located at: | GATAD2A |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Nonsense codon (Translation) |
| Ethnic Origin: | N/A |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Liang Y, Zhang X, Liu Y, Wang L, Ye Y, Tan X, Pu J, Zhang Q, Bao X, Wei X, Li D, Kurita R, Nakamura Y, Li D, Xu X, GATA zinc finger domain-containing protein 2A (GATAD2A) deficiency reactivates fetal haemoglobin in patients with β-thalassaemia through impaired formation of methyl-binding domain protein 2 (MBD2)-containing nucleosome remodelling and deacetylation (NuRD) complex., Br J Haematol, 193(6), 1220-1227, 2021
Created on 2022-11-22 13:47:35,
Last reviewed on 2022-11-22 16:15:18 (Show full history)
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