IthaID: 680

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 95 CCG>GCG [Pro>Ala] HGVS Name: HBA2:c.286C>G
Hb Name: Hb Denmark Hill Protein Info: α2 95(G2) Pro>Ala

Context nucleotide sequence:

Protein sequence:

Also known as:


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


Chromosome: 16
Locus: NG_000006.1
Locus Location: 34178
Size: 1 bp
Located at: α2
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Spanish, West Indian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

Publications / Origin

  1. Wiltshire BG, Clark KG, Lorkin PA, Lehmann H, Haemoglobin Denmark Hill 95 (G2) Pro-Ala, a variant with unusual electrophoretic and oxygen-binding properties., Biochim. Biophys. Acta , 278(3), 459-64, 1972
  2. Vasseur C, Francina A, Wajcman H, Galactéros F, Two new cases of Hb Denmark Hill [alpha 95(G2)Pro----Ala] discovered in south-west France: electrophoretical and chromatographical considerations., Hemoglobin , 15(1), 103-8, 1991
  3. Henderson SJ, Timbs AT, McCarthy J, Gallienne AE, Proven M, Rugless MJ, Lopez H, Eglinton J, Dziedzic D, Beardsall M, Khalil MS, Old JM, Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations., Hemoglobin , 40(2), 75-84, 2016
Created on 2010-06-16 16:13:16, Last reviewed on 2021-04-07 12:16:44 (Show full history)

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