IthaID: 434

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 1 GTG>GCG [Val>Ala] HGVS Name: HBA2:c.5T>C
Hb Name: Hb Lyon-Bron Protein Info: α2 1(NA1) Val>Ala

Context nucleotide sequence:

Protein sequence:

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


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


Chromosome: 16
Locus: NG_000006.1
Locus Location: 33780
Size: 1 bp
Located at: α2
Specific Location: Exon 1

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


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
109Hb Lyon-Bronα2D-10Dual Kit Program28.71.42Heterozygous. Slightly decreased oxygen affinity, mild anaemia.[PDF]
110Hb Lyon-Bronα2VARIANTβ-thal Short Program30.71.73Heterozygous. Slightly decreased oxygen affinity, mild anaemia. [PDF]
111Hb Lyon-Bronα2VARIANT IIβ-thal Short Program30.11.82Heterozygous. Slightly decreased oxygen affinity, mild anaemia.[PDF]
113Hb Lyon-Bronα2VARIANT IIDual Kit Program29.91.502Heterozygous. Slightly decreased oxygen affinity, mild anaemia.[PDF]

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Lacan P, Souillet G, Aubry M, Promé D, Richelme-David S, Kister J, Wajcman H, Francina A, New alpha 2 globin chain variant with low oxygen affinity affecting the N-terminal residue and leading to N-acetylation [Hb Lyon-Bron alpha 1(NA1)Val --> Ac-Ala]., Am. J. Hematol. , 69(3), 214-8, 2002 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2014-03-12 15:17:37 (Show full history)

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