IthaID: 780

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 141 CTG>TGT [Arg>Cys] HGVS Name: HBA2:c.424C>T
Hb Name: Hb Nunobiki Protein Info: α2 141(HC3) Arg>Cys

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: N/A
Oxygen Affinity: Increased Oxygen Affinity
Associated Phenotypes: N/A


Chromosome: 16
Locus: NG_000006.1
Locus Location: 34458
Size: 1 bp
Located at: α2
Specific Location: Exon 3

Other details

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


Disclaimer: The HPLC images are provided as an information resource only. Bio-Rad Laboratories, Inc and the ITHANET Portal disclaim responsibility and have no liability if this information is used for diagnostic or treatment purposes. D-10™ and VARIANT™ are registered trademarks of Bio-Rad Laboratories, Inc. and used with permission. Redistribution and use of the above material is allowed only with permission by Bio-Rad Laboratories, Inc. To access HPLC images and reports for different variants, use the IthaChrom tool.
ID Hb Variant Gene Instrument Method Area (%) Ret Time (min) Comments
220Hb Nunobikiα2D-10Dual Kit Program5.81.44Heterozygous. Increased oxygen affinity leading to a mild erythrocytosis.[PDF]
221Hb Nunobikiα2VARIANTβ-thal Short Program12.81.51Heterozygous. Increased oxygen affinity leading to a mild erythrocytosis.[PDF]
222Hb Nunobikiα2VARIANT IIβ-thal Short Program12.71.6Heterozygous. Increased oxygen affinity leading to a mild erythrocytosis.[PDF]
223Hb Nunobikiα2VARIANT IIDual Kit Program61.55Heterozygous. Increased oxygen affinity leading to a mild erythrocytosis.[PDF]

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  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
Created on 2010-06-16 16:13:16, Last reviewed on 2021-04-07 12:55:09 (Show full history)

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