IthaID: 3556



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 124 CCA>ACA [Pro>Thr] HGVS Name: HBB:c.373C>A
Hb Name: Hb Gibbon Protein Info: β 124(H2) Pro>Thr

Context nucleotide sequence:
CCATCACTTTGGCAAAGAATTCACC [C>A] CACCAGTGCAGGCTGCCTATCAGAA (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTTPVQAAYQKVVAGVANALAHKYH

Also known as: Hb Yuxi

Comments: Hb Gibbon was identified by newborn screening in a male proband with no family history for haemoglobinopathy or other screening abnormalities. Child was born to Caucasian parents. Father was carrier for this variant. Normal electrophoretic pattern by CE at age 1 month. Variant detection by HPLC (VARIANT II) and Q-TOF MS. Normal blood indices with borderline microcytosis at age 12 months, which persisted at age 17 months. Residue Hb β-Pro124 stabilizes the Hb α1-β1 interaction at α-Arg31 and α-Leu34. In a second case, the 373C>A found in a 27-year-old female and her mother both presented with normal hematological parameters.

External Links

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71947
Size: 1 bp
Located at: β
Specific Location: Exon 3

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: American, Chinese
Molecular mechanism: Altered interface
Inheritance: Recessive
DNA Sequence Determined: Yes

Sequence Viewer

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Publications / Origin

  1. Wolf A, Rohr JM, Amador C, Starr LJ, Hoyer JD, Ford JB, Hb Gibbon [β124(H2)Pro→Thr (: c.373C>A, p.P125T)], an Asymptomatic Novel Hemoglobin Variant Detected by Newborn Screening., Hemoglobin, 43(3), 207-209, 2019 PubMed
  2. Zhang J, Xie M, Peng Z, Zhou X, Zhao T, Jin C, Yan Y, Zeng X, Li D, Zhang Y, Su J, Feng N, He J, Yao X, Lv T, Zhu B, Five novel globin gene mutations identified in five Chinese families by next-generation sequencing., Mol Genet Genomic Med, 9(12), e1835, 2021 PubMed
Created on 2020-01-16 16:03:09, Last reviewed on 2022-01-05 11:54:23 (Show full history)

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