IthaID: 1139


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 99 GAT>GCT HGVS Name: HBB:c.299A>C
Hb Name: Hb Radcliffe Protein Info: β 99(G1) Asp>Ala

Context nucleotide sequence:
CTGCACTGTGACAAGCTGCACGTGG [A/C/G/T] TCCTGAGAACTTCAGGGTGAGTCTA (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVAPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

External Links

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: 71023
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: English
Molecular mechanism: Unstable T state
Inheritance: Recessive
DNA Sequence Determined: No

Publications / Origin

  1. Weatherall DJ, Clegg JB, Callender ST, Wells RM, Gale RE, Huehns ER, Perutz MF, Viggiano G, Ho C, Haemoglobin Radcliffe (alpha2beta299(Gi)Ala): a high oxygen-affinity variant causing familial polycythaemia., British journal of haematology, 35(2), 177-91, 1977
Created on 2010-06-16 16:13:16, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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