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

Sequence Viewer

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Publications / Origin

  1. 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 PubMed
Created on 2022-11-22 13:47:35, Last reviewed on 2022-11-22 16:15:18 (Show full history)

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