IthaID: 1132


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 98 GTG>GGG HGVS Name: HBB:c.296T>G
Hb Name: Hb Nottingham Protein Info: β 98(FG5) Val>Gly

Context nucleotide sequence:
GAGCTGCACTGTGACAAGCTGCACG [A/C/G/T] GGATCCTGAGAACTTCAGGGTGAGT (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHGDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

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: 71020
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: Canadian | English | Japanese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

Publications / Origin

  1. Orringer EP, Felice A, Reese A, Wilson JB, Lam H, Gravely ME, Huisman TH, Hb Nottingham (alpha2beta2 (FG5) 98 val leads to gly) in a Caucasian male: clinical and biosynthetic studies., Hemoglobin, 2(4), 315-32, 1978
Created on 2010-06-16 16:13:16, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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