IthaID: 1104



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 92 CAC>TAC HGVS Name: HBB:c.277C>T
Hb Name: Hb M-Milwaukee-2 Protein Info: β 92(F8) His>Tyr

Context nucleotide sequence:
CACCTTTGCCACACTGAGTGAGCTG [A/C/G/T] ACTGTGACAAGCTGCACGTGGATCC (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELYCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as: Hb M-Akita, Hb M-Hyde Park

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71001
Size: 1 bp
Located at: β
Specific Location: Exon 2

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-chain variant
Allele Phenotype:Methemoglobinaemia
Stability: Unstable
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: Worldwide
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

HPLC

Disclaimer: The HPLC images are provided as an information resource only. Bio-Rad Laboratories, Inc and the ITHANET Portal disclaim responsibility and have no liability if this information is used for diagnostic or treatment purposes. D-10™ and VARIANT™ are registered trademarks of Bio-Rad Laboratories, Inc. and used with permission. Redistribution and use of the above material is allowed only with permission by Bio-Rad Laboratories, Inc. To access HPLC images and reports for different variants, use the IthaChrom tool.
ID Hb Variant Gene Instrument Method Area (%) Ret Time (min) Comments
589Hb M-Milwaukee-2βD-10Dual Kit Program31.64.71Congenital methemoglobinemia.[PDF]
592Hb M-Milwaukee-2βVARIANT IIDual Kit Program31.14.435Congenital methemoglobinemia. [PDF]
590Hb M-Milwaukee-2βVARIANTβ-thal Short Program34.95.08Congenital methemoglobinemia.[PDF]
591Hb M-Milwaukee-2βVARIANT IIβ-thal Short Program34.15.15Congenital methemoglobinemia. [PDF]

Sequence Viewer

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Publications / Origin

  1. , , , 0000 PubMed
  2. Ranney HM, Nagel RL, Heller P, Udem L, Oxygen equilibrium of hemoglobin M-Hyde Park., Biochim. Biophys. Acta , 160(1), 112-5, 1968 PubMed
  3. Shibata S, Miyaji T, Iuchi I, Oba Y, Yamamoto K, Amino acid substitution in hemoglobin Makita., J. Biochem. , 63(2), 193-8, 1968 PubMed
  4. Stamatoyannopoulos G, Nute PE, Giblett E, Detter J, Chard R, Haemoglobin M Hyde Park occurring as a fresh mutation: diagnostic, structural, and genetic considerations., J. Med. Genet. , 13(2), 142-7, 1976 PubMed
  5. Hutt PJ, Pisciotta AV, Fairbanks VF, Thibodeau SN, Green MM, DNA sequence analysis proves Hb M-Milwaukee-2 is due to beta-globin gene codon 92 (CAC-->TAC), the presumed mutation of Hb M-Hyde Park and Hb M-Akita., Hemoglobin, 22(1), 1-10, 1998 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2015-12-03 14:42:32 (Show full history)

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