IthaID: 744

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 127 AAG>ACG [Lys>Thr] HGVS Name: HBA1:c.383A>C | HBA2:c.383A>C
Hb Name: Hb St. Claude Protein Info: α2 or α1 127(H10) Lys>Thr

Context nucleotide sequence:

Protein sequence:

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.


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


Chromosome: 16
Locus: NG_000006.1
Locus Location: 34417 or 38228
Size: 1 bp or 1 bp
Located at: α1 or α2
Specific Location: Exon 3

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: French, Canadian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No


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
55Hb St. Claudeα1 or α2D-10Dual Kit Program21.81.42Heterozygous. Clinically normal. [PDF]
56Hb St. Claudeα1 or α2VARIANT IIβ-thal Short Program22.41.88Heterozygous. Clinically normal. [PDF]
57Hb St. Claudeα1 or α2VARIANT IIDual Kit Program22.11.49Heterozygous. Clinically normal. [PDF]

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Vella F, Galbraith P, Wilson JB, Wong SC, Folger GC, Huisman TJ, Hemoglobin St. Claude or alpha2-127(H10)Lys leads to Thr-beta2., Biochim. Biophys. Acta , 365(2), 318-22, 1974 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2014-04-15 09:48:43 (Show full history)

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