IthaID: 1099



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 90 GAG>GAC or GAT HGVS Name: HBB:c.273G>C | HBB:c.273G>T
Hb Name: Hb Pierre-Bénite Protein Info: β 90(F6) Glu>Asp

Context nucleotide sequence:
AGGGCACCTTTGCCACACTGAGTGA [C/G/T] CTGCACTGTGACAAGCTGCACGTGG (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSDLHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70997
Size: 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: N/A
Ethnic Origin: Caucasian
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

HPLC

Disclaimer: The HPLC images are provided as an information resource only. Bio-Rad Laboratories, Inc and the ITHANET Portal disclaim responsibility and have no liability if this information is used for diagnostic or treatment purposes. D-10™ and VARIANT™ are registered trademarks of Bio-Rad Laboratories, Inc. and used with permission. Redistribution and use of the above material is allowed only with permission by Bio-Rad Laboratories, Inc. To access HPLC images and reports for different variants, use the IthaChrom tool.
ID Hb Variant Gene Instrument Method Area (%) Ret Time (min) Comments
70Hb Pierre-BéniteβD-10Dual Kit Program83.31.66This variant displays a high oxygen affinity and leads to erythrocytosis. Elutes as HbA0. [PDF]
72Hb Pierre-BéniteβVARIANT IIDual Kit Program83.21.753This variant displays a high oxygen affinity and leads to erythrocytosis. Elutes as HbA0. [PDF]
71Hb Pierre-BéniteβVARIANTβ-thal Short Program84.82.33This variant displays a high oxygen affinity and leads to erythrocytosis. Elutes as HbA0. [PDF]

Sequence Viewer

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Publications / Origin

  1. Baklouti F, Giraud Y, Francina A, Richard G, Favre-Gilly J, Delaunay J, Hemoglobin Pierre-Bénite [beta 90(F6)Glu----Asp], a new high affinity variant found in a French family., Hemoglobin, 12(2), 171-7, 1988 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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