IthaID: 1115


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 94 GAC>CAC HGVS Name: HBB:c.283G>C
Hb Name: Hb Barcelona Protein Info: β 94(FG1) Asp>His

Context nucleotide sequence:
TGCCACACTGAGTGAGCTGCACTGT [A/C/G/T] ACAAGCTGCACGTGGATCCTGAGAA (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCHKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

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: Increased Oxygen Affinity
Associated Phenotypes: N/A

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71007
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: Spanish
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Publications / Origin

  1. Wajcman H, Aguilar i Bascompte JL, Labie D, Poyart C, Bohn B, Structural and functional studies of hemoglobin Barcelona (alpha 2 beta 2 94 Asp (FG1) replaced by His). Consequences of altering an important intrachain salt bridge involved in the alkaline Bohr effect., Journal of molecular biology, 156(1), 185-202, 1982
Created on 2010-06-16 16:13:16, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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