IthaID: 744



Names and Sequences

Functionality: Globin gene causative mutation
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:
CCTGCGGTGCACGCCTCCCTGGACA [A/C] GTTCCTGGCTTCTGTGAGCACCGTG (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDTFLASVSTVLTSKYR

Location

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

Phenotype

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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: French, Canadian
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
55Hb St. Claudeα1 or α2D-10Dual Kit Program21.81.42Heterozygous. Clinically normal. [PDF]
57Hb St. Claudeα1 or α2VARIANT IIDual Kit Program22.11.49Heterozygous. Clinically normal. [PDF]
56Hb St. Claudeα1 or α2VARIANT IIβ-thal Short Program22.41.88Heterozygous. Clinically normal. [PDF]

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

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)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.

Please publish modules in offcanvas position.