IthaID: 1066


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 79 GAC>GGC [Asp>Gly] HGVS Name: HBB:c.239A>G
Hb Name: Hb G-Hsi-Tsou Protein Info: β 79(EF3) Asp>Gly

Context nucleotide sequence:
TTTAGTGATGGCCTGGCTCACCTGG [A/G] CAACCTCAAGGGCACCTTTGCCACA (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLGNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70963
Size: 1 bp
Located at: β
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Chinese, Greek
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Publications / Origin

  1. Blackwell RQ, Shih TB, Wang CL, Liu CS, Hemoglobin G Hsi-Tsou: 79 Asp to Gly., Biochimica et biophysica acta, 257(1), 49-53, 1972
Created on 2010-06-16 16:13:16, Last reviewed on 2021-07-12 16:04:59 (Show full history)

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