IthaID: 974


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 51 CCT>CGT HGVS Name: HBB:c.155C>G
Hb Name: Hb Willamette Protein Info: β 51(D2) Pro>Arg

Context nucleotide sequence:
GAGTCCTTTGGGGATCTGTCCACTC [A/C/G] TGATGCTGTTATGGGCAACCCTAAG (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTRDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70879
Size: 1 bp
Located at: β
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: African
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Publications / Origin

  1. Quarum M, Shih T, Jones RT, Oxygen equilibrium studies of Hb Willamette alpha 2 beta (2)51(D2)Pro leads to Arg., Hemoglobin, 7(1), 57-69, 1983
Created on 2010-06-16 16:13:16, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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