IthaID: 716

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 114 CCC>CGC [Pro>Arg] HGVS Name: HBA1:c.344C>G | HBA2:c.344C>G
Hb Name: Hb Chiapas Protein Info: α2 or α1 114(GH2) Pro>Arg

Context nucleotide sequence:

Protein sequence:

Also known as:


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


Chromosome: 16
Locus: NG_000006.1
Locus Location: 34378 or 38189
Size: 1 bp or 1 bp
Located at: α1 or α2
Specific Location: Exon 3

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Mexican
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

Publications / Origin

  1. Jones RT, Brimhall B, Lisker R, Chemical characterization of hemoglobin-Mexico and hemoglobin-Chiapas., Biochim. Biophys. Acta , 154(3), 488-95, 1968
  2. Ibarra B, Franco-Gamboa E, Ramírez ML, Cantú JM, Wilson JB, Lam H, Huisman TH, Hb Chiapas alpha 2 114 Pro replaced by Arg beta 2: identification by high pressure liquid chromatography., Hemoglobin , 5(6), 605-8, 1981
Created on 2010-06-16 16:13:16, Last reviewed on 2014-04-14 17:21:19 (Show full history)

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