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

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

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEITPAVHASLDKFLASVSTVLTSKYR

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

HbVar

dbSNP

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

IthaPhen

Heterozygous records (preview in IthaPhen)

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

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
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

Sequence Viewer

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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 PubMed

Created on 2010-06-16 16:13:16, Last reviewed on 2014-04-14 17:46:44 (Show full history)

A/A	Date	Curator(s)	Comments
1	2010-06-16 16:13:16	The IthaGenes Curation Team	Created
2	2014-01-09 12:54:27	The IthaGenes Curation Team	Reviewed.
3	2014-04-11 21:56:24	The IthaGenes Curation Team	Reviewed. Added reference.
4	2014-04-14 17:46:44	The IthaGenes Curation Team	Reviewed. Confirmed by sequencing.

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