IthaID: 643



Names and Sequences

Functionality: Globin gene causative mutation
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

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

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]

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Turkish
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

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
Created on 2010-06-16 16:13:16, Last reviewed on 2014-04-13 12:24:50 (Show full history)

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