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Literature summary for 3.4.21.104 extracted from
- Functional MASP2 gene polymorphism in patients with history of rheumatic fever (2008), Hum. Immunol., 69, 41-44.
Protein Variants
| Protein Variants | Comment | Organism |
|---|---|---|
| D105G | it is investigated whether partial or total MASP-2 deficiencies resulting from D105G mutation are associated with rheumatic fever and chronic rheumatic heart disease: 148 patients are analyzed with a history of rheumatic fever, including 106 with chronic rheumatic heart and 42 without cardiac sequelae, and 129 control subjects. The D105G mutation is detected in four patients with chronic rheumatic heart and in five control subjects , all in the heterozygous state. None of the patients without cardiac sequelae has the mutation. No significant difference is found in the frequency of the mutant allele between the groups. D105G mutation in the MASP2 gene does not play a major role in the pathogenesis of rheumatic fever | Homo sapiens |
Organism
| Organism | UniProt | Comment | Textmining |
|---|---|---|---|
| Homo sapiens | - |
- |
- |
Synonyms
| Synonyms | Comment | Organism |
|---|---|---|
| MASP2 | - |
Homo sapiens |
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Release 2023.1 (January 2023)
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