IthaID: 570



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 58 CAC>TAC [His>Tyr] HGVS Name: HBA1:c.175C>T | HBA2:c.175C>T
Hb Name: Hb M-Boston Protein Info: α2 or α1 58(E7) His>Tyr

Context nucleotide sequence:
CCACGGCTCTGCCCAGGTTAAGGGC [C/T] ACGGCAAGAAGGTGGCCGACGCGCT (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGYGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as: Hb M-Gothenburg , Hb M-Kiskunhalas , Hb M-Norin , Hb M-Osaka

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34067 or 37871
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:Methemoglobinaemia
Stability: N/A
Oxygen Affinity: Decreased Oxygen Affinity
Associated Phenotypes: N/A

Other details

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

Sequence Viewer

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Publications / Origin

  1. Pulsinelli PD, Perutz MF, Nagel RL, Structure of hemoglobin M Boston, a variant with a five-coordinated ferric heme., Proc. Natl. Acad. Sci. U.S.A. , 70(12), 3870-4, 1973 PubMed
  2. Nishikura K, Sugita Y, Nagai M, Yoneyama Y, Jagenburg R, High cooperativity of haemoglobin M Boston in the completely reduced state., Nature , 254(5502), 727-8, 1975 PubMed
  3. Takahashi S, Lin AK, Ho C, Proton nuclear magnetic resonance studies of hemoglobins M Boston (alpha 58E7 His leads to Tyr) and M Milwaukee (beta 67E11 Val leads to Glu): spectral assignments of hyperfine-shifted proton resonances and of proximal histidine (E7) NH resonances to the alpha and beta chains of normal human adult hemoglobin., Biochemistry , 19(23), 5196-202, 1980 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2015-12-03 14:36:46 (Show full history)

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