IthaID: 1060


Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 77 CAC>CGC [His>Arg] HGVS Name: HBB:c.233A>G
Hb Name: Hb Costa Rica Protein Info: β 77(EF1) His>Arg

Context nucleotide sequence:
GGTGCCTTTAGTGATGGCCTGGCTC [A/C/G/T] CCTGGACAACCTCAAGGGCACCTTT (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLARLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70957
Size: 1 bp
Located at: β
Specific Location: Exon 2

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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Costa Rican
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Publications / Origin

  1. Rodriguez Romero WE, Castillo M, Chaves MA, Saenz GF, Gu LH, Wilson JB, Baysal E, Smetanina NS, Leonova JY, Huisman TH, Hb Costa Rica or alpha 2 beta 2 77(EF1)His --> Arg: the first example of a somatic cell mutation in a globin gene., Human genetics, 97(6), 829-33, 1996
Created on 2010-06-16 16:13:16, Last reviewed on 2014-10-09 12:43:02 (Show full history)

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