IthaID: 240



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 116 (+TGAT) HGVS Name: HBB:c.349_350insTGAT
Hb Name: N/A Protein Info: β 116(+TGAT); modified C-terminal sequence: (116)Leu-Ile-Ser-Leu-Trp-Gln-Arg-Ile-His-Pro-Thr- Ser-Ala-Gly-Cys-Leu-Ser-Glu-Ser-Gly-Gly- Trp-Cys-Gly-(140)COOH

Context nucleotide sequence:
AACGTGCTGGTCTGTGTGCTGGCCC [-/TGAT] ATCACTTTGGCAAAGAATTCACCCC (Strand: -)

Also known as:

Comments: The insertion of TGAT within codon 116 (CAT>CTGATAT) generates a frameshift and a premature termination codon between codons 138 and 139. Found among members of a family who are Tamil refugees residing in Switzerland. Found in combination with HBB:c.364G>C (Hb D-Punjab) in a yound child presenting with microcytic anaemia. Found in a heterozygous state in the father.

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71924
Size: 4 bp
Located at: β
Specific Location: Exon 3

Phenotype

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

Other details

Type of Mutation: Point-Mutation(Insertion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: Sri Lankan
Inheritance: Recessive
DNA Sequence Determined: No

Sequence Viewer

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Publications / Origin

  1. Frischknecht H, Kiewitz R, Schmugge M, A 4 base pair TGAT insertion at codon 116 of the beta globin gene causes beta0-thalassemia., Haematologica, 90(0), ECR20, 2005 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2019-11-14 09:15:02 (Show full history)

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