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:
GCACGCGCACAAGCTTCGGGTGGAC [C/G] CGGTCAACTTCAAGGTGAGCGGCGG (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDAVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

Phenotype

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

Location

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

Sequence Viewer

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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 PubMed
  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 PubMed
  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 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2021-04-07 12:16:44 (Show full history)

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