IthaID: 779



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 141 CGT>GGT [Arg>Gly] HGVS Name: HBA1:c.424C>G | HBA2:c.424C>G
Hb Name: Hb J-Camagüey Protein Info: α2 or α1 141(HC3) Arg>Gly

Context nucleotide sequence:
GAGCACCGTGCTGACCTCCAAATAC [A/C/G/T] GTTAAGCTGGAGCCTCGGTAGCCGT (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYG

Location

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

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-chain variant
Allele Phenotype:N/A
Stability: Unstable
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: Australian, Chinese, Spanish
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

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
Created on 2010-06-16 16:13:16, Last reviewed on 2014-04-15 13:05:09 (Show full history)

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