IthaID: 660



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 90 AAG>ATG [Lys>Met] HGVS Name: HBA1:c.272A>T | HBA2:c.272A>T
Hb Name: Hb Handa Protein Info: α2 or α1 90(FG2) Lys>Met

Context nucleotide sequence:
GCCCTGAGCGACCTGCACGCGCACA [A/G/T] GCTTCGGGTGGACCCGGTCAACTTC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHMLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as: Hb Munakata

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34164 or 37968
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: N/A
Oxygen Affinity: N/A
Associated Phenotypes: N/A

Other details

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

Sequence Viewer

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Publications / Origin

  1. Harano T, Harano K, Shibata S, Ueda S, Imai K, Seki M, HB Handa [alpha 90 (FG 2) Lys replaced by Met]: structure and biosynthesis of a new slightly higher oxygen affinity variant., Hemoglobin , 6(4), 379-89, 1982 PubMed
  2. Sugihara J, Imamura T, Kagimoto M, Matsuo T, Yamada H, Imoto T, Yanase T, A new electrophoretic variant of hemoglobin (Munakata) in which a lysine residue is replaced by a methionine residue at position 90 of the alpha-chain., Biochim. Biophys. Acta , 744(1), 119-20, 1983 PubMed
  3. Hidaka K, Iuchi I, Shimasaki S, Mizuta W, Takatsuka M, Mori T, Tohdoh A, Matsuo M, The survey of abnormal hemoglobins in the Kobe district: Hb G-Coushatta [beta 22(B4)Glu----Ala], Hb Ankara (beta 10(A7)Ala----Asp], Hb Handa [alpha 90(FG2)Lys----Met], and Hb J-Habana [alpha 71(E20)Ala----Glu]., Hemoglobin, 10(1), 65-72, 1986 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2014-04-14 10:33:50 (Show full history)

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