IthaID: 1031


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 69 GGT>CGT HGVS Name: HBB:c.208G>C
Hb Name: Hb Kenitra Protein Info: β 69(E13) Gly>Arg

Context nucleotide sequence:
GAAGGCTCATGGCAAGAAAGTGCTC [A/C/G] GTGCCTTTAGTGATGGCCTGGCTCA (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLRAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

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: 70932
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: Moroccan
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

Publications / Origin

  1. Delanoe-Garin J, Arous N, Blouquit Y, Hafsia R, Bardakdjian J, Lacombe C, Rosa J, Galacteros F, Hemoglobin kenitra alpha 2 beta 2 69 (E13) Gly----Arg. A new beta variant of elevated expression associated with alpha-thalassemia, found in a Moroccan woman., Hemoglobin, 9(1), 1-9, 1985
Created on 2010-06-16 16:13:16, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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