IthaID: 779

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Benign / Likely Benign
Common Name: CD 141 CGT>GGT [Arg>Gly] HGVS Name: NM_000558.3(HBA1):c.424C>G
Hb Name: Hb J-Camagüey Protein Info: α1 141(HC3) Arg>Gly

Context nucleotide sequence:

Protein sequence:

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.


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


Chromosome: 16
Locus: NG_000006.1
Locus Location: 38269
Size: 1 bp
Located at: α1
Specific Location: Exon 3

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Australian, Chinese, Spanish
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Martinez G, Lima F, Residenti C, Colombo B, Hb J Camaguey alpha 2 141(HC3) Arg replaced by Gly beta 2: a new abnormal human hemoglobin., Hemoglobin , 2(1), 47-52, 1978 PubMed
  2. Xiong F, Yang KG, Liang CC, Huang YW, Wang RX, Zhang NJ, A case of Hb J-Camaguey or alpha 2141(HC3)Arg----Gly beta 2 in a Chinese family., Hemoglobin , 8(4), 397-9, 1984 PubMed
  3. Brennan SO, Lowrey IR, Harris MG, Rodwell R, Zarkos K, Wilkinson T, Yakas J, Kronenberg H, Hb J-Camaguey [alpha 141(HC3)Arg----Gly] associated with alpha-thalassemia-1 in an Australian family., Hemoglobin , 15(4), 303-7, 1991 PubMed
  4. Romero MJ, Garrido ML, Abril E, Garrido F, de Pablos JM, Detection of Hb J-Camagüey [alpha 141(HC3)Arg-->Gly] in three Spanish families., Hemoglobin , 19(5), 287-9, 1995 PubMed
  5. de la Fuente-Gonzalo F, Sala F, Ropero P, González FA, [First world case of -α3,7-associated Hb J-Camagüey]., Med Clin (Barc), 138(9), 412-3, 2012 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2024-04-12 11:31:44 (Show full history)

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