IthaID: 1281

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 139 AAT>AAR [Asn>Lys] HGVS Name: HBB:c.420T>R
Hb Name: Hb Hinsdale Protein Info: β 139(H17) Asn>Lys

Context nucleotide sequence:

Protein sequence:

Also known as:

Comments: Reported by protein analysis as an asparagine [AAT] to lysine [AAG or AAA] substitution at positon β139(H17). Oxygen affinity studies show that the variant has low affinity for oxygen (p50 = 34.3 mmHg) and reduced cooperativity. Heat and isopropanol instability tests are negative. The mutation involves a site that lies in the central cavity close to the 2,3-diphosphoglycerate (2,3-DPG) binding site.

We follow the HGVS sequence variant nomenclature and IUPAC standards.


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


Chromosome: 11
Locus: NG_000007.3
Locus Location: 71994
Size: 1 bp
Located at: β
Specific Location: Exon 3

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: N/A
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Moo-Penn WF, Johnson MH, Jue DL, Lonser R, Hb Hinsdale [beta 139 (H17)Asn----Lys]: a variant in the central cavity showing reduced affinity for oxygen and 2,3-diphosphoglycerate., Hemoglobin, 13(5), 455-64, 1989 PubMed
  2. Bonaventura C, Arumugam M, Cashon R, Bonaventura J, Moo-Penn WF, Chloride masks effects of opposing positive charges in Hb A and Hb Hinsdale (beta 139 Asn-->Lys) that can modulate cooperativity as well as oxygen affinity., J Mol Biol, 239(4), 561-8, 1994 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2023-05-04 15:51:18 (Show full history)

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