IthaID: 800


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 2 CAT>CAA or CAG HGVS Name: HBB:c.9T>A | HBB:c.9T>G
Hb Name: Hb Okayama Protein Info: β 2(NA2) His>Gln

Context nucleotide sequence:
CGGCAGACTTCTCCTCAGGAGTCAG [A/C/G/T] TGCACCATGGTGTCTGTTTGAGGTT (Strand: -)

Protein sequence:
MVQLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70603
Size: 1 bp
Located at: β
Specific Location: Exon 1

Other details

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

Publications / Origin

  1. Harano T, Harano K, Shibata S, Ueda S, Mori H, Arimasa N, Hemoglobin Okayama [beta 2 (NA 2) His replaced by Gln]: a new 'silent' hemoglobin variant with substituted amino acid residue at the 2,3-diphosphoglycerate binding site., FEBS letters, 156(1), 20-2, 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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