IthaID: 3336


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 7 GAG>TAG [Glu>STOP] HGVS Name: HBD:c.22G>T
Hb Name: N/A Protein Info: N/A

Protein sequence:
MVHLTPEX

Also known as:

Comments: Nonesense mutation that gives rise to a stop codon (TAG) at codon 7, causing premature termination of translation.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: δ-thalassaemia
Allele Phenotype:δ0
Associated Phenotypes: N/A

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 63204
Size: 1 bp
Located at: δ
Specific Location: Exon 1

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

Frequencies

Publications / Origin

  1. Sun M, Lou J, Zhao Y, Liu Y, Molecular and Hematological Characterization of Two Novel δ-Globin Gene Mutations Found in Chinese Individuals., Hemoglobin , 2018
Created on 2018-06-04 19:21:06, Last reviewed on (Show full history)

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