IthaID: 563

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 55 GTT>GCT [Val>Ala] HGVS Name: HBA2:c.167T>C
Hb Name: Hb Gerland Protein Info: α2 55(E4) Val>Ala

Context nucleotide sequence:

Protein sequence:

Also known as:

External Links


Chromosome: 16
Locus: NG_000006.1
Locus Location: 34059
Size: 1 bp
Located at: α2
Specific Location: Exon 2


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


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ID Hb Variant Gene Instrument Method Area (%) Ret Time (min) Comments
120Hb Gerlandα2D-10Dual Kit Program87.41.68Heterozygous. Elutes with HbA. Clinically asymptomatic neutral alpha chain variant. [PDF]
123Hb Gerlandα2VARIANT IIDual Kit Program8.12.609Heterozygous. Elutes with HbA. Clinically asymptomatic neutral alpha chain variant.[PDF]
121Hb Gerlandα2VARIANTβ-thal Short Program85.72.46Heterozygous. Elutes with HbA. Clinically asymptomatic neutral alpha chain variant.[PDF]
122Hb Gerlandα2VARIANT IIβ-thal Short Program87.62.47

Sequence Viewer

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Publications / Origin

  1. Lacan P, Aubry M, Couprie N, Francina A, Hb Gerland [alpha55(E4)Val-->Ala (alpha2)]: a new neutral alpha chain variant involving the alpha2 gene., Hemoglobin , 25(4), 417-20, 2001 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2014-03-28 14:30:06 (Show full history)

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