IthaID: 2537



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 135 GCT>ACT [Ala>Thr] HGVS Name: HBB:c.406G>A
Hb Name: Hb Calvino Protein Info: β 135(H13) Ala>Thr

Context nucleotide sequence:
GCAGGCTGCCTATCAGAAAGTGGTG [G/A] CTGGTGTGGCTAATGCCCTGGCCCA (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVTGVANALAHKYH

Comments: Silent HBB Variant Found in Coexistence with α-Thalassaemia (-α3.7 homozygosity).

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71980
Size: 1 bp
Located at: β
Specific Location: Exon 3

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-chain variant
Allele Phenotype:Silent Hb
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: N/A

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: African
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Marsella M, Salvagno G, Dolcini B, Ferlini A, Ravani A, Harteveld CL, Giordano PC, Borgna-Pignatti C, Characterization of Hb Calvino (HBB: c.406G > A): A New Silent β-Globin Gene Variant Found in Coexistence with α-Thalassemia in a Family of African Origin., Hemoglobin , 38(5), 369-72, 2014 PubMed
Created on 2014-10-09 16:59:53, Last reviewed on 2018-02-21 17:25:05 (Show full history)

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