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
Disclaimer: The HPLC images are provided as an information resource only.
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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 | ||
|---|---|---|---|---|---|---|---|---|---|
| 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
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
- GERALD PS, EFRON ML, Chemical studies of several varieties of Hb M., Proc. Natl. Acad. Sci. U.S.A. , 47(0), 1758-67, 1961 PubMed
- 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 PubMed
- HOBOLTH N, HEMOGLOBIN MARHUS. I. CLINICAL FAMILY STUDY., Acta Paediatr Scand , 54(0), 355-62, 1965 PubMed
- 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 PubMed
- 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 PubMed
Created on 2010-06-16 16:13:16,
Last reviewed on 2021-03-11 16:18:38 (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 14:26:35 | The IthaGenes Curation Team | Reviewed. Phenotype updated |
| 4 | 2017-04-10 12:45:53 | The IthaGenes Curation Team | Reviewed. Referenced added. |
| 5 | 2021-03-11 16:18:38 | The IthaGenes Curation Team | Reviewed. Link added. |
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IthaGenes was last updated on 2024-11-20 13:24:07