IthaID: 1076



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 82 AAG>AAT or AAC HGVS Name: HBB:c.249G>C | HBB:c.249G>T
Hb Name: Hb Providence Protein Info: β 82(EF6) Lys>Asn

Context nucleotide sequence:
GCCTGGCTCACCTGGACAACCTCAA [C/G/T] GGCACCTTTGCCACACTGAGTGAGC (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLNGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70973
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: Decreased Oxygen Affinity
Associated Phenotypes: N/A

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Japanese | African
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
101Hb ProvidenceβD-10Dual Kit Program16.40.97This variant is spontaneously deaminated X-Asn 13-19%; X-Asp 32-33% leading to several fast eluting peaks. [PDF]
606Hb ProvidenceβD-10Dual Kit Program31.30.3This variant is spontaneously deaminated X-Asn 13-19%; X-Asp 32-33% leading to several fast eluting peaks. [PDF]
607Hb ProvidenceβD-10Dual Kit Program16.40.97This variant is spontaneously deaminated X-Asn 13-19%; X-Asp 32-33% leading to several fast eluting peaks. [PDF]

Sequence Viewer

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Publications / Origin

  1. Moo-Penn WF, Jue DL, Bechtel KC, Johnson MH, Schmidt RM, Hemoglobin Providence. A human hemoglobin variant occurring in two forms in vivo., The Journal of biological chemistry, 251(23), 7557-62, 1976 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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