IthaID: 928

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 37 TGG>AGG [Trp>Arg] HGVS Name: HBB:c.112T>A
Hb Name: Hb Rothschild Protein Info: β 37(C3) Trp>Arg

Context nucleotide sequence:

Protein sequence:

Also known as:

Comments: The amino acid substitution (Trp>Arg) is an important contact point at the α1β2 interface and favors a T-quaternary state of the Hb tetramer. This leads to a low oxygen affinity state, which results in premature release of oxygen and drop in oxygen saturation.

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: 70836
Size: 1 bp
Located at: β
Specific Location: Exon 2

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Gacon G, Belkhodja O, Wajcman H, Labie D, Najman A, Structural and functional studies of Hb Rothschild beta (C3) Trp replaced by Arg. A new variant of the alpha1beta2 contact., FEBS letters, 82(2), 243-6, 1977 PubMed
  2. Li D, Wan Q, Li C, Ma H, Wang G, A case of Hb Rothschild (: c.112T>A) with low pulse oximetry: a first familial presentation in China., Hematology, 27(1), 1204-1207, 2022 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2023-03-06 16:26:10 (Show full history)

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