IthaID: 1104
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| 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
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-chain variant |
| Allele Phenotype: | Methemoglobinaemia |
| Stability: | Unstable |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 71001 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Worldwide |
| Molecular mechanism: | Altered heme pocket |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
HPLC
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To access HPLC images and reports for different variants, use the IthaChrom tool.
| ID | Hb Variant | Gene | Instrument | Method | Area (%) | Ret Time (min) | Comments | ||
|---|---|---|---|---|---|---|---|---|---|
| 589 | Hb M-Milwaukee-2 | β | D-10 | Dual Kit Program | 31.6 | 4.71 | Congenital methemoglobinemia. | [PDF] | |
| 590 | Hb M-Milwaukee-2 | β | VARIANT | β-thal Short Program | 34.9 | 5.08 | Congenital methemoglobinemia. | [PDF] | |
| 591 | Hb M-Milwaukee-2 | β | VARIANT II | β-thal Short Program | 34.1 | 5.15 | Congenital methemoglobinemia. | [PDF] | |
| 592 | Hb M-Milwaukee-2 | β | VARIANT II | Dual Kit Program | 31.1 | 4.435 | Congenital methemoglobinemia. | [PDF] |
In silico pathogenicity prediction
Publications / Origin
- , , , 0000
- Ranney HM, Nagel RL, Heller P, Udem L, Oxygen equilibrium of hemoglobin M-Hyde Park., Biochim. Biophys. Acta , 160(1), 112-5, 1968
- Shibata S, Miyaji T, Iuchi I, Oba Y, Yamamoto K, Amino acid substitution in hemoglobin Makita., J. Biochem. , 63(2), 193-8, 1968
- 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
- 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
Created on 2010-06-16 16:13:16,
Last reviewed on 2022-06-03 12:02:38 (Show full history)
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