IthaID: 1282



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 140 GCC>ACC HGVS Name: HBB:c.421G>A
Hb Name: Hb Saint-Jacques Protein Info: β 140(H18) Ala>Thr

Context nucleotide sequence:
GAAAGTGGTGGCTGGTGTGGCTAAT [A/G] CCCTGGCCCACAAGTATCACTAAGC (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANTLAHKYH

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71995
Size: 1 bp
Located at: β
Specific Location: Exon 3

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: 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
114Hb Saint-JacquesβD-10Dual Kit Program76.11.72Heterozygous. Hb variant with increased oxygen affinity.[PDF]
117Hb Saint-JacquesβVARIANT IIDual Kit Program29.62.316Heterozygous. Hb variant with increased oxygen affinity.[PDF]
115Hb Saint-JacquesβVARIANTβ-thal Short Program79.22.5Heterozygous. Hb variant with increased oxygen affinity.[PDF]
116Hb Saint-JacquesβVARIANT IIβ-thal Short Program80.52.56Heterozygous. Hb variant with increased oxygen affinity.[PDF]

Sequence Viewer

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Publications / Origin

  1. Rochette J, Varet B, Boissel JP, Clough K, Labie D, Wajcman H, Bohn B, Magne P, Poyart C, Structure and function of Hb Saint-Jacques (alpha 2 beta 2 140 (H18) Ala----Thr): a new high-oxygen-affinity variant with altered bisphosphoglycerate binding., Biochimica et biophysica acta, 785(1), 14-21, 1984 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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