IthaID: 1245



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 129 GCC>GTC [Ala>Val] HGVS Name: HBB:c.389C>T
Hb Name: Hb La Desirade Protein Info: β 129(H7) Ala>Val

Context nucleotide sequence:
GAATTCACCCCACCAGTGCAGGCTG [C>T] CTATCAGAAAGTGGTGGCTGGTGTG (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAVYQKVVAGVANALAHKYH

Also known as:

Comments: Unstable hemoglobin variant, exhibits a decreased oxygen affinity and normal heme-heme interaction. Migrates in the same region as normal HbA by standard electrophoresis.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71963
Size: 1 bp
Located at: β
Specific Location: Exon 3

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: African |
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Sequence Viewer

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Frequencies

Publications / Origin

  1. Merault G, Keclard L, Garin J, Poyart C, Blouquit Y, Arous N, Galacteros F, Feingold J, Rosa J, Hemoglobin La Desirade alpha A2 beta 2 129 (H7) Ala----Val: a new unstable hemoglobin., Hemoglobin, 10(6), 593-605, 1986 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2023-02-22 09:45:14 (Show full history)

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