IthaID: 643



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
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:
AACGCGCTGTCCGCCCTGAGCGACC [G/T] GCACGCGCACAAGCTTCGGGTGGAC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDRHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

Phenotype

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]

Location

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: Recessive
DNA Sequence Determined: No

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 2021-03-31 13:43:44 (Show full history)

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