IthaID: 94


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 28 (CTG>CGG) Leu >Arg HGVS Name: HBB:c.86T>G
Hb Name: Hb Chesterfield Protein Info: β 28(B10) Leu>Arg

Context nucleotide sequence:
GTGGATGAAGTTGGTGGTGAGGCCC [A/C/G/T] GGGCAGGTTGGTATCAAGGTTACAA (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEARGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70680
Size: 1 bp
Located at: β
Specific Location: Exon 1

Phenotype

Hemoglobinopathy Group: Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-thalassaemia, β-chain variant
Allele Phenotype:Thalassaemia dominant
Dominant
Stability: Unstable
Oxygen Affinity: N/A
Associated Phenotypes: Haemolytic anaemia [HP:0001878]
Ineffective erythropoiesis [HP:0010972]

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: English
Molecular mechanism: N/A
Inheritance: Dominant
DNA Sequence Determined: Yes

Frequencies

Publications / Origin

  1. Thein SL, Best S, Sharpe J, Paul B, Clark DJ, Brown MJ, Hemoglobin Chesterfield (beta 28 Leu----Arg) produces the phenotype of inclusion body beta thalassemia., Blood, 77(12), 2791-3, 1991
Created on 2010-06-16 16:13:14, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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