IthaID: 643

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 86 CTG>CGG [Leu>Arg] HGVS Name: HBA1:c.260T>G | HBA2:c.260T>G
Hb Name: Hb Moabit Protein Info: α2 or α1 86(F7) Leu>Arg

Context nucleotide sequence:

Protein sequence:

Also known as:

Comments: Autosomal dominant for unstable hemoglobin disease (MONDO:0020459).

We follow the HGVS sequence variant nomenclature and IUPAC standards.


Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-chain variant
Allele Phenotype:N/A
Stability: Unstable
Oxygen Affinity: Decreased Oxygen Affinity
Associated Phenotypes: Haemolytic anaemia [HP:0001878]


Chromosome: 16
Locus: NG_000006.1
Locus Location: 34152 or 37956
Size: 1 bp or 1 bp
Located at: α1 or α2
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Turkish, Caucasian
Molecular mechanism: N/A
Inheritance: Dominant
DNA Sequence Determined: No

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Knuth A, Pribilla W, Marti HR, Winterhalter KH, Hemoglobin Moabit: alpha 86 (F7) Leu leads to Arg: a new unstable abnormal hemoglobin., Acta Haematol. , 61(3), 121-4, 1979 PubMed
  2. Gulbis B, Tshilolo L, Wajcman H, Riou J, Galactéros F, Promé D, Kister J, Papassotiriou I, Van Laethem Y, Vertongen F, Structural and functional studies of hemoglobin Moabit (alpha 86(F7) Leu-->Arg., Hematol Cell Ther, 39(3), 137-8, 1997 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2022-10-24 10:20:33 (Show full history)

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