IthaID: 855

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 17-19 (-GGTGAA) HGVS Name: HBB:c.54_59del
Hb Name: Hb Lyon Protein Info: β 17(A14) - 18(A15) Lys-Val->0

Context nucleotide sequence:

Also known as:

Comments: Haemoglobin Lyon has deletions of residues β17 lysine (A 14) and β18 valine (A 15). Found in a proband of Spanish and North African descend. Stability tests revealed a slightly decreased heat stability.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


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


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70648
Size: 6 bp
Located at: β
Specific Location: Exon 1

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: N/A
Ethnic Origin: French, Spanish, North African
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Cohen-Solal M, Blouquit Y, Garel MC, Thillet J, Gaillard L, Creyssel R, Gibaud A, Rosa J, Haemoglobin Lyon (beta17-18 (A 14-15) Lys-Val leads to O). Determination by sequenator analysis., Biochimica et biophysica acta, 351(2), 306-16, 1974 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2019-11-07 12:06:53 (Show full history)

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