IthaID: 902

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 28 CTG>CAG [Leu>Gln] HGVS Name: HBB:c.86T>A
Hb Name: Hb Saint Louis Protein Info: β 28(B10) Leu>Gln

Context nucleotide sequence:

Protein sequence:

Also known as:

Comments: β28 Leu>Gln change produces an unstable haemoglobin, which gives rise to severe haemolytic anaemia associated with methaemoglobinaemia. The β28 (B10) Gln and the distal histidine (E7) swing towards each other, stabilizing a water molecule in the normally hydrophobic haem pocket which results in thermal instability and methaemoglobin formation [PMID: 1581206].

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-chain variant
Allele Phenotype:Methemoglobinaemia
Stability: Unstable
Oxygen Affinity: Increased Oxygen Affinity
Associated Phenotypes: Haemolytic anaemia [HP:0001878]


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70680
Size: 1 bp
Located at: β
Specific Location: Exon 1

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: French, Slovakian, Yugoslavian, Indian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Cohen-Solal M, Seligmann M, Thillet J, Rosa J, Haemoglobin Saint Louis beta28 (B10) leucine leads to glutamine. A new unstable haemoglobin only present in a ferri form., FEBS letters, 33(1), 37-41, 1973 PubMed
  2. Colah RB, Nadkarni A, Gorakshakar A, Sawant P, Gorivale M, Mehta P, Sawant M, Ghosh K, Five Rare β Globin Chain Hemoglobin Variants in India., Indian J Hematol Blood Transfus , 32(0), 282-6, 2016 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2022-11-30 12:49:39 (Show full history)

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