IthaID: 3605



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: 3' UTR +1606 (C>T) HGVS Name: HBB:c.*132C>T
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
GCCTAATAAAAAACATTTATTTTCATTG [C/T] AATGATGTATTTAAATTATTTCTGAATAT (Strand: -)

Also known as:

Comments: The mutation is located in the 3' UTR of the β-globin gene. In heterozygous carriers, the mutation causes a silent phenotype with borderline to normal MCV and HbA2 levels, while in compound heterozygosity with severe β-thal mutations; it leads to a mild intermedia β-thal phenotype.

External Links

No available links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 72150
Size: 1 bp
Located at: β
Specific Location: 3'UTR

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: β-thalassaemia
Allele Phenotype:β++ (silent)
Associated Phenotypes: N/A

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Thai, Turkish
Inheritance: Recessive
DNA Sequence Determined: Yes

Sequence Viewer

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Publications / Origin

  1. Bilgen T, Clark OA, Ozturk Z, Akif Yesilipek M, Keser I, Two novel mutations in the 3' untranslated region of the beta-globin gene that are associated with the mild phenotype of beta thalassemia., Int J Lab Hematol, 35(1), 26-30, 2013 PubMed
  2. Sripusanapan A, Phusua A, Fanhchaksai K, Charoenkwan P, Compound heterozygosity of a silent beta-thalassemia mutation at the 3'-untranslated region (HBB: c.*132 C>T) and beta-zero thalassemia results in thalassemia intermedia., Pediatr Blood Cancer, 67(4), e28157, 2020 PubMed
Created on 2020-07-16 10:43:03, Last reviewed on 2020-07-16 10:44:46 (Show full history)

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