IthaID: 1293



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 142 GCC>GAC HGVS Name: HBB:c.428C>A
Hb Name: Hb Ohio Protein Info: β 142(H20) Ala>Asp

Context nucleotide sequence:
GTGGCTGGTGTGGCTAATGCCCTGG [A/C/T] CCACAAGTATCACTAAGCTCGCTTT (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALDHKYH

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 72002
Size: 1 bp
Located at: β
Specific Location: Exon 3

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: English | Scottish
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Moo-Penn WF, Schneider RG, Shih T, Jones RT, Govindarajan S, Govindarajan PG, Patchen LC, Hemoglobin Ohio (beta 142 Ala replaced by): a new abnormal hemoglobin with high oxygen affinity and erythrocytosis., Blood, 56(2), 246-50, 1980 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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