IthaID: 979



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 52 GAT>GCT HGVS Name: HBB:c.158A>C
Hb Name: Hb Ocho Rios Protein Info: β 52(D3) Asp>Ala

Context nucleotide sequence:
TCCTTTGGGGATCTGTCCACTCCTG [A/C/G/T] TGCTGTTATGGGCAACCCTAAGGTG (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPAAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70882
Size: 1 bp
Located at: β
Specific Location: Exon 2

Phenotype

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

Other details

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

Sequence Viewer

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Publications / Origin

  1. Beresford CH, Clegg JB, Weatherall DJ, Haemoglobin Ocho Rios ( beta52 (D3) aspartic acid leads to alanine): a new beta-chain variant of haemoglobin A found in combination with haemoglobin S., Journal of medical genetics, 9(2), 151-3, 1972 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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