IthaID: 1266



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 135 GCT>GAT [Ala>Asp] HGVS Name: HBB:c.407C>A
Hb Name: Hb Beckman Protein Info: β 135(H13) Ala>Asp

Context nucleotide sequence:
CAGGCTGCCTATCAGAAAGTGGTGG [A/C/T] TGGTGTGGCTAATGCCCTGGCCCAC (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVDGVANALAHKYH

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71981
Size: 1 bp
Located at: β
Specific Location: Exon 3

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-chain variant
Allele Phenotype:N/A
Stability: Unstable
Oxygen Affinity: Decreased Oxygen Affinity
Associated Phenotypes: Haemolytic anaemia [HP:0001878]

Other details

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

Sequence Viewer

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Publications / Origin

  1. Kim SY, Kim GY, Jo SA, Lee EH, Cho EH, Hwang SH, Lee EY, A novel hemoglobin variant beta135(H13) Ala > Asp identified in an asymptomatic Korean family by direct sequencing: suggesting a new insight into Hb Beckman mutation., Int J Lab Hematol , 32(1), e175-8, 2010 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2014-04-15 18:54:12 (Show full history)

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