IthaID: 1094



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 89 AGT>CGT or AGA or AGG [Ser>Arg] HGVS Name: HBB:c.268A>C | HBB:c.270T>A | HBB:c.270T>G
Hb Name: Hb Vanderbilt Protein Info: β 89(F5) Ser>Arg

Context nucleotide sequence:
CCTCAAGGGCACCTTTGCCACACTG [A/C] GTGAGCTGCACTGTGACAAGCTGCA (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLRELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

Comments: Replacement of serine with arginine at codon 89 leads to decreased sensitivity to 2,3-bisphosphoglyceric acid (2,3-BPG), possibly due to conformational change in its binding site, thereby increasing Hb affinity for oxygen.

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70992 or 70994
Size: 1 bp or 1 bp
Located at: β
Specific Location: Exon 2

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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Caucasian
Inheritance: Recessive
DNA Sequence Determined: Yes

Sequence Viewer

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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 PubMed
  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 PubMed
  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 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2020-01-31 12:39:45 (Show full history)

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