IthaID: 679



Names and Sequences

Functionality: Globin gene causative mutation
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

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

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

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: 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
97Hb Roanneα1 or α2D-10Dual Kit Program871.7Heterozygote clinically normal. Elutes as HbA.[PDF]
100Hb Roanneα1 or α2VARIANT IIDual Kit Program87.91.76Heterozygote clinically normal. Elutes as HbA.[PDF]
98Hb Roanneα1 or α2VARIANTβ-thal Short Program88.52.48Heterozygote clinically normal. Elutes as HbA.[PDF]
99Hb Roanneα1 or α2VARIANT IIβ-thal Short Program89.12.43Heterozygote clinically normal. Elutes as HbA.[PDF]

Sequence Viewer

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Publications / Origin

  1. 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)

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