IthaID: 780

Context nucleotide sequence:
GAGCACCGTGCTGACCTCCAAATAC [C/T] GTTAAGCTGGAGCCTCGGTGGCCAT (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYC

Also known as:

Comments: Hb Nunobiki displays high oxygen affinity, relatively slow auto-oxidation, and normal stability in heat and isopropanol testing. It was initially detected in a 41-year-old Japanese male with borderline erythrocytosis as an α141 Arg>Cys change in either HBA1 or HBA2 gene by structural analysis. It was later detected by molecular testing in HBA2 in a Belgian woman with no Japanese background, as well as in 7 cases from four Spanish families with minimum levels of erythrocytosis [DOI: 10.4172/2157-7412.1000180]. The replacement of the last amino acid of the outer surface of the α chain C-terminal region terminal -Arginine (basic) with Cysteine (ambivalent), implies the modification of its electrical charge, and thus detection by any kind of electrophoresis system.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

Heterozygous records (preview in IthaPhen)

1. Shimasaki S, A new hemoglobin variant, hemoglobin Nunobiki [alpha 141 (HC3) Arg----Cys]. Notable influence of the carboxy-terminal cysteine upon various physico-chemical characteristics of hemoglobin., J. Clin. Invest. , 75(2), 695-701, 1985 PubMed
2. Kazanetz EG, Leonova JY, Huisman TH, van der Dijs FP, Smit JW, Hb Nunobiki or alpha 2 141 (HC3)Arg-->Cys beta 2 in a Belgian female results from a CGT-->TGT mutation in the alpha 2-globin gene., Hemoglobin, 20(4), 443-5, 1996 PubMed
3. de la Fuente-Gonzalo F, Nieto JM, Villegas A, González FA, Martínez R, Ropero P, Characterization of deletional and non-deletional alpha globin variants in a large cohort from Spain between 2009 and 2014., Ann Hematol, 98(7), 1537-1545, 2019 PubMed