IthaID: 1244


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 129 GCC>CCC HGVS Name: HBB:c.388G>C
Hb Name: Hb Crete Protein Info: β 129(H7) Ala>Pro

Context nucleotide sequence:
AGAATTCACCCCACCAGTGCAGGCT [C/G] CCTATCAGAAAGTGGTGGCTGGTGT (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAPYQKVVAGVANALAHKYH

Also known as:

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71962
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: Greek
Molecular mechanism: Altered secondary structure
Inheritance: Recessive
DNA Sequence Determined: No

Publications / Origin

  1. Maniatis A, Bousios T, Nagel RL, Balazs T, Ueda Y, Bookchin RM, Maniatis GM, Hemoglobin Crete (beta 129 ala leads to pro): a new high-affinity variant interacting with beta o -and delta beta o -thalassemia., Blood, 54(1), 54-63, 1979
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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