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
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
Sequence Viewer
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Publications / Origin
- , , , 0000 PubMed
- Ranney HM, Nagel RL, Heller P, Udem L, Oxygen equilibrium of hemoglobin M-Hyde Park., Biochim. Biophys. Acta , 160(1), 112-5, 1968 PubMed
- Shibata S, Miyaji T, Iuchi I, Oba Y, Yamamoto K, Amino acid substitution in hemoglobin Makita., J. Biochem. , 63(2), 193-8, 1968 PubMed
- 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
- 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 2022-06-03 12:02:38 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:16 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2015-12-03 14:42:32 | The IthaGenes Curation Team | Reviewed. References added. Phenotype updated. |
| 4 | 2022-06-03 12:02:38 | The IthaGenes Curation Team | Reviewed. Reference corrected. |
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IthaGenes was last updated on 2024-11-20 13:24:07