IthaID: 551



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 50 CAC>CGC [His>Arg] HGVS Name: HBA1:c.152A>G | HBA2:c.152A>G
Hb Name: Hb Aichi Protein Info: α2 or α1 50(CE8) His>Arg

Context nucleotide sequence:
TACTTCCCGCACTTCGACCTGAGCC [A/G/T] CGGCTCTGCCCAGGTTAAGGGCCAC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSRGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34044 or 37848
Size: 1 bp or 1 bp
Located at: α1 or α2
Specific Location: Exon 2

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-chain variant
Allele Phenotype:N/A
Stability: Unstable
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: Japanese
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
599Hb Aichiα1 or α2D-10Dual Kit Program21.94.05Heterozygous. Elutes as HbS. [PDF]
602Hb Aichiα1 or α2VARIANT IIDual Kit Program22.53.465Heterozygous. Elutes as HbS. [PDF]
600Hb Aichiα1 or α2VARIANTβ-thal Short Program19.74.17Heterozygous. Elutes as HbS. [PDF]
601Hb Aichiα1 or α2VARIANT IIβ-thal Short Program21.14.33Heterozygous. Elutes as HbS. [PDF]

Sequence Viewer

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Publications / Origin

  1. Harano T, Harano K, Shibata S, Ueda S, Mori H, Seki M, Hemoglobin Aichi [alpha 50(CE8) His----Arg]: a new slightly unstable hemoglobin variant discovered in Japan., FEBS Lett. , 169(2), 297-9, 1984 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2015-12-14 11:32:49 (Show full history)

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