IthaID: 1094


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 89 AGT>AGR [Ser>Arg] HGVS Name: HBB:c.270T>R
Hb Name: Hb Vanderbilt Protein Info: β 89(F5) Ser>Arg

Context nucleotide sequence:
AAGGGCACCTTTGCCACACTGAG [T>R] GAGCTGCACTGTGACAAGCTGCA (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLRELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

Comments: Hb Vanderbilt ([β89(F5)Ser>Arg) has a high oxygen affinity and is observed together with polycythaemia in heterozygous individuals. It was initially detected by peptide mapping and sequence analysis, but was later reported by direct sequencing to be the result of two possible substitutions leading to the same amino acid change (AGT>AGG or AGT>AGA). The abnormal Hb can not be detected by conventional electrophoresis, but is separated from Hb A using anion exchange chromatography. It has reduced sensitivity to 2,3-diphosphoglycerate acid (2,3-DPG), possibly due to conformational change in its binding site, thereby increasing Hb affinity for oxygen.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70994
Size: 1 bp
Located at: β
Specific Location: Exon 2

Other details

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

In silico pathogenicity prediction

Publications / Origin

  1. Paniker NV, Lin KT, Krantz SB, Flexner JM, Wasserman BK, Puett D, Haemoglobin Vanderbilt (alpha2beta289Ser leads to Arg): a new haemoglobin with high oxygen affinity and compensatory erythrocytosis., British journal of haematology, 39(2), 249-58, 1978
  2. Goodyer MJ, Elhassadi EI, Percy MJ, McMullin MF, A novel base change leading to Hb Vanderbilt [β89(F5)Ser→Arg, AGT>AGA]., Hemoglobin , 35(4), 428-9, 2011
  3. Shomali W, Brar R, Arekapudi SR, Gotlib JR, A Kindred with a β-Globin Base Substitution [β89(F5)Ser→Arg (AG>AG); : c.270T>G] Resulting in Hemoglobin Vanderbilt., Hemoglobin, 43(0), 273-276, 2019
Created on 2010-06-16 16:13:16, Last reviewed on 2023-06-12 12:09:00 (Show full history)

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