Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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0.820 | GeneticVariation | BEFREE | We investigated newly generated immortalized heterozygous and homozygous R349P desmin knock-in myoblasts in conjunction with the corresponding desminopathy mice as models for desminopathies to analyse major protein quality control processes in response to the presence of R349P mutant desmin. | 30179276 | 2019 |
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0.820 | GeneticVariation | BEFREE | The MyoRobot technology discloses a premature biomechanical decay of skeletal muscle fiber bundles derived from R349P desminopathy mice. | 31341183 | 2019 |
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C | 0.820 | CausalMutation | CLINVAR | Mutant desmin substantially perturbs mitochondrial morphology, function and maintenance in skeletal muscle tissue. | 27393313 | 2016 |
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C | 0.820 | CausalMutation | CLINVAR | The toxic effect of R350P mutant desmin in striated muscle of man and mouse. | 25394388 | 2015 |
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0.820 | GeneticVariation | UNIPROT | Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: report of the guideline development subcommittee of the American Academy of Neurology and the practice issues review panel of the American Association of Neuromuscular & Electrodiagnostic Medicine. | 25313375 | 2014 |
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|
C | 0.820 | CausalMutation | CLINVAR | Divergent molecular effects of desmin mutations on protein assembly in myofibrillar myopathy. | 20448486 | 2010 |
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C | 0.820 | CausalMutation | CLINVAR | Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P. | 17439987 | 2007 |
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C | 0.820 | CausalMutation | CLINVAR | Pathogenic effects of a novel heterozygous R350P desmin mutation on the assembly of desmin intermediate filaments in vivo and in vitro. | 15800015 | 2005 |