IthaID: 722
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| 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 |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
CCTGGCCGCCCACCTCCCCGCCGAG [A/T] TCACCCCTGCGGTGCACGCCTCCCT (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEITPAVHASLDKFLASVSTVLTSKYR
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: | 34386 |
| Size: | 1 bp |
| Located at: | α2 |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | French |
| Molecular mechanism: | Altered α1β1 interface |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
HPLC
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To access HPLC images and reports for different variants, use the IthaChrom tool.
| ID | Hb Variant | Gene | Instrument | Method | Area (%) | Ret Time (min) | Comments | ||
|---|---|---|---|---|---|---|---|---|---|
| 203 | Hb Ambroise Pare | α2 | D-10 | Dual Kit Program | 79.7 | 1.67 | Heterozygous. Elutes with HbA. | [PDF] | |
| 204 | Hb Ambroise Pare | α2 | VARIANT | β-thal Short Program | 81.5 | 2.44 | Heterozygous. Elutes with HbA. | [PDF] | |
| 205 | Hb Ambroise Pare | α2 | VARIANT II | β-thal Short Program | 83.3 | 2.5 | Heterozygous. Elutes with HbA. | [PDF] | |
| 206 | Hb Ambroise Pare | α2 | VARIANT II | Dual Kit Program | 80.7 | 1.797 | Heterozygous. Elutes with HbA. | [PDF] |
In silico pathogenicity prediction
Publications / Origin
- 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
Created on 2010-06-16 16:13:16,
Last reviewed on 2014-04-14 17:46:44 (Show full history)
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