IthaID: 176



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 71 (+T) HGVS Name: HBB:c.216dupT
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
TGGCAAGAAAGTGCTCGGTGCCTTT [-/T] AGTGATGGCCTGGCTCACCTGGACA (Strand: -)

Also known as:

Comments: Found in two members of a family; in a heterozygous state in the father and in combination with HBB:c.316-197C>T in his son. The introduction of a nt T between codons 71 and 72 (TTTAGT>TTTTAGT) results in a frameshift with a nonsense codon at codon 72 (TGA) and premature termination of translation.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: β-thalassaemia
Allele Phenotype:β0
Associated Phenotypes: Haemolytic anaemia [HP:0001878]
Ineffective erythropoiesis [HP:0010972]

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70940
Size: 1 bp
Located at: β
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Insertion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: Chinese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Sequence Viewer

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Frequencies

Publications / Origin

  1. Chan V, Chan TK, Todd D, A new codon 71 (+T) mutant resulting in beta zero thalassemia., Blood, 74(6), 2304, 1989 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2019-11-12 10:15:52 (Show full history)

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