IthaID: 1107



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 92 CAC>CGC HGVS Name: HBB:c.278A>G
Hb Name: Hb Mozhaisk Protein Info: β 92(F8) His>Arg

Context nucleotide sequence:
ACCTTTGCCACACTGAGTGAGCTGC [A/C/G] CTGTGACAAGCTGCACGTGGATCCT (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELRCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71002
Size: 1 bp
Located at: β
Specific Location: Exon 2

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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Peruvian/Italian, Russian
Inheritance: Dominant
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Spivak VA, Molchanova TP, Postnikov YuV , Aseeva EA, Lutsenko IN, Tokarev YuN , A new abnormal hemoglobin: Hb Mozhaisk beta 92(F8)His leads to Arg., Hemoglobin, 6(2), 169-81, 1982 PubMed
  2. Benzoni E, Giannone V, Michetti L, Seia M, Cavalleri L, Curcio C, Hb Mozhaisk [β92(F8)His→Arg; HBB: c.278A>G] as a De Novo Mutation in a Child of Mixed Ethnic Origins., Hemoglobin , 41(4), 314-316, 2017 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2018-01-22 18:59:19 (Show full history)

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