IthaID: 1390



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 136 GGT>GAT [Gly>Asp] HGVS Name: HBD:c.410G>A
Hb Name: Hb A2-Babinga Protein Info: δ 136(H14) Gly>Asp

Context nucleotide sequence:
GCTGCCTATCAGAAGGTGGTGGCTG [A/G] TGTGGCTAATGCCCTGGCTCACAAG (Strand: -)

Protein sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVADVANALAHKYH

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 64618
Size: 1 bp
Located at: δ
Specific Location: Exon 3

Phenotype

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

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: No
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Frequencies

Publications / Origin

  1. de Jong WW, Bernini LF, Haemoglobin Babinga (delta 136 glycine-aspartic acid): a new delta chain variant., Nature, 219(5161), 1360-2, 1968 PubMed
  2. Huisman TH, Reynolds CA, Dozy AM, Wilson JB, Hemoglobin Babinga or alpha 2 delta 2 136 Gly--Asp observed in the American Negro., Biochim. Biophys. Acta , 175(1), 223-5, 1969 PubMed
  3. McRoyan DK, Liu PI, Mankad VN, Wilson JB, Huisman TH, Hb A2-Babinga, Hb S, and HPFH in members of a family from Creola, Alabama., Hemoglobin , 8(4), 413-6, 1984 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2014-05-02 09:23:25 (Show full history)

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