IthaID: 2553



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 14 CTG>C-G HGVS Name: HBB:c.44delT
Hb Name: N/A Protein Info: β 14(A11) Leu>Arg-Gly-Ala-Arg-stop

Context nucleotide sequence:
GAGGAGAAGTCTGCCGTTACTGCCC [T/-] GTGGGGCAAGGTGAACGTGGATGAA (Strand: -)

Comments: The deletion determines a frameshift and the generation of a premature termination codon (codon 18).

External Links

No available links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70638
Size: 1 bp
Located at: β
Specific Location: Exon 1

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(Deletion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: Argentinean, Spanish
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Pepe C, Eberle SE, Chaves A, Milanesio B, Aguirre FM, Gómez VA, Diaz L, Mansini AP, Fernandez DA, Sciuccati G, Candas A, Cervio C, Bonduel M, Feliú-Torres A, A new β(0) frameshift mutation, HBB: c.44delT (p.Leu14ArgfsX5), identified in an Argentinean family associated with secondary genetic modifiers of β-thalassemia., Hemoglobin , 38(6), 444-6, 2014 PubMed
Created on 2015-06-16 13:19:21, Last reviewed on (Show full history)

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