IthaID: 441


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 5 GCC>GAC [Ala>Asp] HGVS Name: HBA1:c.17C>A
Hb Name: Hb J-Toronto Protein Info: α1 5(A3) Ala>Asp

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

Protein sequence:
MVLSPDDKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

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

Location

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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: British
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

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-Torontoα1D-10Dual Kit Program17.91.58Heterozygote. Clinically normal.[PDF]
188Hb J-Torontoα1VARIANT IIβ-thal Short Program22.41.88Heterozygote. Clinically normal.[PDF]
189Hb J-Torontoα1VARIANT IIDual Kit Program201.693Heterozygote. Clinically normal. [PDF]

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
  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
  3. Khorshidi M, Roshan P, Bayat N, Mahdavi MR, Najmabadi H, Hemoglobin Q-Iran detected in family members from Northern Iran: a case report., J Med Case Rep, 6(0), 47, 2012
  4. Henderson SJ, Timbs AT, McCarthy J, Gallienne AE, Proven M, Rugless MJ, Lopez H, Eglinton J, Dziedzic D, Beardsall M, Khalil MS, Old JM, Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations., Hemoglobin , 40(2), 75-84, 2016
Created on 2010-06-16 16:13:15, Last reviewed on 2021-04-07 09:21:35 (Show full history)

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