IthaID: 897


Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 27 GCC>GTC HGVS Name: HBB:c.83C>T
Hb Name: Hb Grange-Blanche Protein Info: β 27(B9) Ala>Val

Context nucleotide sequence:
AACGTGGATGAAGTTGGTGGTGAGG [A/C/G/T] CCTGGGCAGGTTGGTATCAAGGTTA (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEVLGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70677
Size: 1 bp
Located at: β
Specific Location: Exon 1

Phenotype

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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Portuguese
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

Publications / Origin

  1. Baklouti F, Giraud Y, Francina A, Richard G, Périer C, Geyssant A, Jaubert J, Brizard C, Delaunay J, Hemoglobin Grange-Blanche [beta 27(B9) Ala----Val], a new variant with normal expression and increased affinity for oxygen., FEBS letters, 223(1), 59-62, 1987
Created on 2010-06-16 16:13:16, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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