IthaID: 645


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 87 CAC>TAC [His>Tyr] HGVS Name: HBA2:c.262C>T
Hb Name: Hb M-Iwate Protein Info: α2 87(F8) His>Tyr

Context nucleotide sequence:
CGCGCTGTCCGCCCTGAGCGACCTG [C/T] ACGCGCACAAGCTTCGGGTGGACCC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLYAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as: Hb M-Kankakee, Hb M-Oldenburg, Hb M-Sendai

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-chain variant
Allele Phenotype:N/A
Stability: N/A
Oxygen Affinity: Decreased Oxygen Affinity
Associated Phenotypes: N/A

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34154
Size: 1 bp
Located at: α2
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Japanese, Irish, German, Turkish, Romanian, Scottish, Caucasian, African-American
Molecular mechanism: Altered heme pocket
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Publications / Origin

  1. Konigsberg W, Lehmann H, The amino acid substitution in hemoglobin M-Iwate., Biochim. Biophys. Acta , 107(2), 266-9, 1965
  2. Sjöquist J, Heterogeneity of heavy (gamma) chain preparations from human gamma G-immunoglobulins., Nature , 210(5041), 1182-3, 1966
  3. Jones RT, Coleman RD, Heller P, The structural abnormality of hemoglobin M Kankakee., J. Biol. Chem. , 241(9), 2137-43, 1966
  4. Ozsoylu S, Congenital methemoglobinemia due to hemoglobin M., Acta Haematol. , 47(4), 225-32, 1972
  5. Trittelvitz E, Gersonde K, Winterhalter KH, Electron-spin resonance of nitrosyl haemoglobins: normal alpha and beta chains and mutants Hb M Iwate and Hb Zürich., Eur. J. Biochem. , 51(1), 33-42, 1975
  6. Mayne EE, Elder GE, Lappin TR, Ferguson LA, Hb M Iwate [alpha (2)87His----Tyr beta 2]: de novo mutation in an Irish family., Hemoglobin , 10(2), 205-8, 1986
  7. Moradkhani K, Préhu C, Old J, Henderson S, Balamitsa V, Luo HY, Poon MC, Chui DH, Wajcman H, Patrinos GP, Mutations in the paralogous human alpha-globin genes yielding identical hemoglobin variants., Ann. Hematol. , 88(6), 535-43, 2009
  8. Viana MB, Belisário AR, De novo alpha 2 hemoglobin gene (HBA2) mutation in a child with hemoglobin M Iwate and symptomatic methemoglobinemia since birth., Rev Bras Hematol Hemoter , 36(3), 230-4, 2014
Created on 2010-06-16 16:13:16, Last reviewed on 2021-03-31 22:08:42 (Show full history)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.