IthaID: 1009
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 63 CAT>TAT | HGVS Name: | HBB:c.190C>T |
| Hb Name: | Hb M-Saskatoon | Protein Info: | β 63(E7) His>Tyr |
Context nucleotide sequence:
TATGGGCAACCCTAAGGTGAAGGCT [A/C/T] ATGGCAAGAAAGTGCTCGGTGCCTT (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAYGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
Also known as: Hb Hörlein-Weber, Hb Leipzig, Hb M-Arhus, Hb M-Chicago, Hb M-Emory, Hb M-Erlangen, Hb M-Hamburg, Hb M-Hida, Hb M-Kurume, Hb M-Radom, Hb Novi Sad
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: | Increased Oxygen Affinity |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70914 |
| 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 | ||
|---|---|---|---|---|---|---|---|---|---|
| 77 | Hb M-Saskatoon | β | D-10 | Dual Kit Program | 6.9 | 4.7 | Methemoglobinemia and unstable variant. | [PDF] | |
| 78 | Hb M-Saskatoon | β | VARIANT | β-thal Short Program | 9.3 | 4.91 | Methemoglobinemia and unstable variant. | [PDF] | |
| 79 | Hb M-Saskatoon | β | VARIANT II | β-thal Short Program | 11.7 | 5 | Methemoglobinemia and unstable variant. | [PDF] | |
| 80 | Hb M-Saskatoon | β | VARIANT II | Dual Kit Program | 4.4 | 4.51 | Methemoglobinemia and unstable variant. | [PDF] |
In silico pathogenicity prediction
Publications / Origin
- GERALD PS, EFRON ML, Chemical studies of several varieties of Hb M., Proc. Natl. Acad. Sci. U.S.A. , 47(0), 1758-67, 1961
- JOSEPHSON AM, WEINSTEIN HG, YAKULIS VJ, SINGER L, HELLER P, A new variant of hemoglobin M disease: hemoglobin M-Chicago., J. Lab. Clin. Med. , 59(0), 918-25, 1962
- HOBOLTH N, HEMOGLOBIN MARHUS. I. CLINICAL FAMILY STUDY., Acta Paediatr Scand , 54(0), 355-62, 1965
- Betke K, Kleihauer E, Gehring-Müller R, Braunitzer G, Jacobi J, Schmidt I, [HbM Hamburg, a beta chain anomaly: alpha-2-beta-2-63Tyr (equals HbM Saskatoon)]., Klin. Wochenschr. , 44(16), 961-6, 1966
- Kedar PS, Nadkarni AH, Phanasgoankar S, Madkaikar M, Ghosh K, Gorakshakar AC, Colah RB, Mohanty D, Congenital methemoglobinemia caused by Hb-MRatnagiri (beta-63CAT-->TAT, His-->Tyr) in an Indian family., American journal of hematology, 79(2), 168-70, 2005
Created on 2010-06-16 16:13:16,
Last reviewed on 2021-03-11 16:18:38 (Show full history)
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