IthaID: 722



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 117 TTC>ATC [Phe>Ile] HGVS Name: HBA2:c.352T>A
Hb Name: Hb Ambroise Pare Protein Info: α2 117(GH5) Phe>Ile

Context nucleotide sequence:
CCTGGCCGCCCACCTCCCCGCCGAG [A/T] TCACCCCTGCGGTGCACGCCTCCCT (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEITPAVHASLDKFLASVSTVLTSKYR

External Links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34386
Size: 1 bp
Located at: 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
Inheritance: Recessive
DNA Sequence Determined: Yes
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
203Hb Ambroise Pareα2D-10Dual Kit Program79.71.67Heterozygous. Elutes with HbA. [PDF]
206Hb Ambroise Pareα2VARIANT IIDual Kit Program80.71.797Heterozygous. Elutes with HbA. [PDF]
204Hb Ambroise Pareα2VARIANTβ-thal Short Program81.52.44Heterozygous. Elutes with HbA. [PDF]
205Hb Ambroise Pareα2VARIANT IIβ-thal Short Program83.32.5Heterozygous. Elutes with HbA. [PDF]

Sequence Viewer

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Publications / Origin

  1. Joly P, Lacan P, Bererd M, Garcia C, Zanella-Cleon I, Becchi M, Aubry M, Couprie N, Francina A, Description of two new alpha variants: Hb Canuts [alpha85(F6)Asp-->His (alpha1)] and Hb Ambroise Pare [alpha117(GH5)Phe-->Ile (alpha2)]; two new beta variants: Hb Beaujolais [beta84(EF8)Thr-->Asn] and Hb Monplaisir [beta147 (Tyr-Lys-Leu-Ala-Phe-Phe-Leu-Leu-Ser-Asn-Phe-Tyr-158-COOH)] and one new delta variant: Hb (A2)North Africa [delta59(E3)Lys-->Met]., Hemoglobin, 33(3), 196-205, 2009 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2014-04-14 17:46:44 (Show full history)

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