IthaID: 1032


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Benign / Likely Benign
Common Name: CD 69 GGT>GAT HGVS Name: HBB:c.209G>A
Hb Name: Hb Rambam Protein Info: β 69(E13) Gly>Asp

Context nucleotide sequence:
AAGGCTCATGGCAAGAAAGTGCTCG [A/G] TGCCTTTAGTGATGGCCTGGCTCAC (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLDAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

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: N/A
Oxygen Affinity: N/A
Associated Phenotypes: N/A

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70933
Size: 1 bp
Located at: β
Specific Location: Exon 2

Other details

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

In silico pathogenicity prediction

Publications / Origin

  1. Sick K, Beale D, Irvine D, Lehmann H, Goodall PT, MacDougall S, Haemoglobin G Copenhagen and haemoglobin J Cambridge. Two new beta-chain variants of haemoglobin A., Biochimica et biophysica acta, 140(2), 231-42, 1967
Created on 2010-06-16 16:13:16, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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