IthaID: 885


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 24 GGT>CGT HGVS Name: HBB:c.73G>C
Hb Name: Hb Riverdale-Bronx Protein Info: β 24(B6) Gly>Arg

Context nucleotide sequence:
GGGCAAGGTGAACGTGGATGAAGTT [C/G] GTGGTGAGGCCCTGGGCAGGTTGGT (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVRGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

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: 70667
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: German | Jewish
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

Publications / Origin

  1. Ranney HM, Jacobs AS, Udem L, Zalusky R, Hemoglobin Riverdale-Bronx an unstable hemoglobin resulting from the substitution of arginine for glycine at helical residue B6 of the B beta polypeptide chain., Biochemical and biophysical research communications, 33(6), 1004-5, 1968
Created on 2010-06-16 16:13:16, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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