IthaID: 679

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	N/A
Common Name:	CD 94 GAC>GAG [Asp>Glu]	HGVS Name:	HBA1:c.285C>G \| HBA2:c.285C>G
Hb Name:	Hb Roanne	Protein Info:	α2 or α1 94(G1) Asp>Glu

Context nucleotide sequence:
TGCACGCGCACAAGCTTCGGGTGGA [C/G] CCGGTCAACTTCAAGGTGAGCGGCG (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVEPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

HbVar	ClinVar
dbSNP	dbSNP
OMIM

Phenotype

Hemoglobinopathy Group:	Structural Haemoglobinopathy
Hemoglobinopathy Subgroup:	α-chain variant
Allele Phenotype:	N/A
Stability:	Unstable
Oxygen Affinity:	Decreased Oxygen Affinity
Associated Phenotypes:	N/A

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	16
Locus:	NG_000006.1
Locus Location:	34177 or 37981
Size:	1 bp or 1 bp
Located at:	α1 or α2
Specific Location:	Exon 2

Other details

Type of Mutation:	Point-Mutation(Substitution)
Effect on Gene/Protein Function:	Missense codons (Protein Structure)
Ethnic Origin:	French
Molecular mechanism:	N/A
Inheritance:	Recessive
DNA Sequence Determined:	No

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
97	Hb Roanne	α1 or α2	D-10	Dual Kit Program	87	1.7	Heterozygote clinically normal. Elutes as HbA.	[PDF]
98	Hb Roanne	α1 or α2	VARIANT	β-thal Short Program	88.5	2.48	Heterozygote clinically normal. Elutes as HbA.	[PDF]
99	Hb Roanne	α1 or α2	VARIANT II	β-thal Short Program	89.1	2.43	Heterozygote clinically normal. Elutes as HbA.	[PDF]
100	Hb Roanne	α1 or α2	VARIANT II	Dual Kit Program	87.9	1.76	Heterozygote clinically normal. Elutes as HbA.	[PDF]

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

Kister J, Kiger L, Francina A, Hanny P, Szymanowicz A, Blouquit Y, Promé D, Galactéros F, Delaunay J, Wajcman H, Hemoglobin Roanne [alpha 94(G1) Asp-->Glu]: a variant of the alpha 1 beta 2 interface with an unexpected high oxygen affinity., Biochim. Biophys. Acta , 1246(1), 34-8, 1995 PubMed

Created on 2010-06-16 16:13:16, Last reviewed on 2014-04-14 13:09:38 (Show full history)

A/A	Date	Curator(s)	Comments
1	2010-06-16 16:13:16	The IthaGenes Curation Team	Created
2	2013-10-15 17:00:14	The IthaGenes Curation Team	Reviewed.
3	2014-04-14 13:09:38	The IthaGenes Curation Team	Reviewed. Added common name, reference and allele phenotype.

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