IthaID: 1247



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 129 GCC>? [Ala>Asp or Ala>Glu] HGVS Name: HBB:p.[Ala130Asp or Ala130Glu]
Hb Name: Hb K-Cameroon Protein Info: β 129(H7) Ala>Asp OR β 129(H7) Ala>Glu

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQADYQKVVAGVANALAHKYH

Comments: Found in combination with Hb S; characterization by protein analysis was incomplete; codon 129 is GCC (Ala), that can be mutated to GAC (Ala-> Asp) but not easily to GAA or GAG (Ala->Glu)

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: N/A
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: 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: Cameroon
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

To the best of our knowledge, this is unpublished data. Please use with caution!

Created on 2010-06-16 16:13:17, Last reviewed on 2014-04-15 18:44:41 (Show full history)

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