IthaID: 1137


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 99 GAT>AAT HGVS Name: HBB:c.298G>A
Hb Name: Hb Kempsey Protein Info: β 99(G1) Asp>Asn

Context nucleotide sequence:
GCTGCACTGTGACAAGCTGCACGTG [A/C/G/T] ATCCTGAGAACTTCAGGGTGAGTCT (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVNPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

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: 71022
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: African French | Irish
Molecular mechanism: Unstable T state
Inheritance: Recessive
DNA Sequence Determined: No

Publications / Origin

  1. Reed CS, Hampson R, Gordon S, Jones RT, Novy MJ, Brimhall B, Edwards MJ, Koler RD, Erythrocytosis secondary to increased oxygen affinity of a mutant hemoglobin, hemoglobin Kempsey., Blood, 31(5), 623-32, 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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