IthaID: 441



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 5 GCC>GAC [Ala>Asp] HGVS Name: HBA1:c.17C>A | HBA2:c.17C>A
Hb Name: Hb J-Toronto Protein Info: α2 or α1 5(A3) Ala>Asp

Context nucleotide sequence:
GAACCCACCATGGTGCTGTCTCCTG [A/C] CGACAAGACCAACGTCAAGGCCGCC (Strand: +)

Protein sequence:
MVLSPDDKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 33792 or 37596
Size: 1 bp or 1 bp
Located at: α1 or α2
Specific Location: Exon 1

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: English
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
186Hb J-Torontoα1 or α2D-10Dual Kit Program17.91.58Heterozygote. Clinically normal.[PDF]
189Hb J-Torontoα1 or α2VARIANT IIDual Kit Program201.693Heterozygote. Clinically normal. [PDF]
188Hb J-Torontoα1 or α2VARIANT IIβ-thal Short Program22.41.88Heterozygote. Clinically normal.[PDF]

Sequence Viewer

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Publications / Origin

  1. Crookston JH, Irvine D, Beale D, Lehmann H, A new haemoglobin, J Toronto (alpha-5 alanine to aspartic acid)., Nature , 208(5015), 1059-61, 1965 PubMed
  2. Vella F, Hill JR, Wiltshire B, Lehmann H, Hemoglobin J Toronto: alpha 2-5 Ala-Asp-beta 2., Clin. Biochem. , 4(3), 137-40, 1971 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2014-04-24 11:51:36 (Show full history)

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