IthaID: 778

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 141 CGT>CAT [Arg>Ser] HGVS Name: HBA1:c.424C>A | HBA2:c.424C>A
Hb Name: Hb J-Cubujuqui Protein Info: α2 or α1 141(HC3) Arg>Ser

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: Increased Oxygen Affinity
Associated Phenotypes: N/A


Chromosome: 16
Locus: NG_000006.1
Locus Location: 34458 or 38269
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: America Indian, Mexican
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Sáenz GF, Elizondo J, Alvarado MA, Atmetlla F, Arroyo G, Martínez G, Lima F, Colombo B, Chemical characterization of a new haemoglobin variant haemoglobin J Cubujuqui (alpha2141(HC3)Arg replaced by Ser beta2)., Biochim. Biophys. Acta , 494(1), 48-50, 1977 PubMed
  2. Moo-Penn WF, Therrell BL, Jue DL, Johnson MH, Hemoglobin Cubujuqui (alpha 141 Arg-Ser): functional consequences of the alteration of the C-terminus of the alpha chain of hemoglobin., Hemoglobin , 5(7), 715-24, 1981 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2014-04-15 13:01:18 (Show full history)

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