IthaID: 2492

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 12 ACT>CCT [Thr>Pro] HGVS Name: HBB:c.37A>C
Hb Name: Hb Ashburton Protein Info: β 12(A9) Thr>Pro

Context nucleotide sequence:

Also known as: Hb Feilding

External Links


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


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70631
Size: 1 bp
Located at: β
Specific Location: Exon 1

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Brennan SO, Povall A, Lankes U, Hb Ashburton [β12(A9)Thr → Pro; HBB: c.37A > C], a novel, mildly unstable variant and the first substitution identified at codon 12., Hemoglobin , 38(2), 79-83, 2014 PubMed
  2. Ghallyan N, Donald T, Broad D, Johnson S, Browett P, Van de Water N, Hb Feilding [β12(A9)Thr → Pro; HBB: c.37A>C]: a novel unstable β-globin chain variant., Hemoglobin , 39(1), 49-51, 2015 PubMed
Created on 2014-06-04 17:16:10, Last reviewed on 2017-01-17 10:45:54 (Show full history)

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