rs62636495
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
"Disease mutations in the ""head"" domain of the extra-sarcomeric protein desmin distinctly alter its assembly and network-forming properties."
|
19763525 |
2009 |
rs62636495
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation.
|
10545598 |
1999 |
rs62636495
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies.
|
23687351 |
2013 |
rs62636495
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel desmin R355P mutation causes cardiac and skeletal myopathy.
|
16009553 |
2005 |
rs62636495
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation.
|
22395865 |
2012 |
rs62636495
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Characterization of a novel S13F desmin mutation associated with desmin myopathy and heart block in a Chinese family.
|
18061454 |
2008 |
rs62636495
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy.
|
20829228 |
2010 |
rs62636495
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene.
|
10717012 |
2000 |
rs62636495
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Desminopathies in muscle disease.
|
15495235 |
2004 |
rs62636495
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Dual color photoactivation localization microscopy of cardiomyopathy-associated desmin mutants.
|
22403400 |
2012 |
rs62636495
|
|
|
0.800 |
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 |
rs62636495
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience.
|
23349452 |
2013 |
rs62636495
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Missense mutations in desmin associated with familial cardiac and skeletal myopathy.
|
9697706 |
1998 |
rs62636495
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Molecular diagnostic experience of whole-exome sequencing in adult patients.
|
26633545 |
2016 |
rs62636495
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients.
|
14711882 |
2004 |
rs62636495
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Nebulette is a powerful cytolinker organizing desmin and actin in mouse hearts.
|
27733623 |
2016 |
rs62636495
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Nebulin binding impedes mutant desmin filament assembly.
|
23615443 |
2013 |
rs62636495
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Pathogenic effects of a novel heterozygous R350P desmin mutation on the assembly of desmin intermediate filaments in vivo and in vitro.
|
15800015 |
2005 |
rs62636495
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Recurrent and founder mutations in the Netherlands: the cardiac phenotype of DES founder mutations p.S13F and p.N342D.
|
22215463 |
2012 |
rs62636495
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Respiratory insufficiency in desminopathy patients caused by introduction of proline residues in desmin c-terminal alpha-helical segment.
|
12766977 |
2003 |
rs62636495
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene.
|
19879535 |
2009 |
rs62636495
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene.
|
19879535 |
2009 |
rs62636495
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Small deletions disturb desmin architecture leading to breakdown of muscle cells and development of skeletal or cardioskeletal myopathy.
|
14648196 |
2004 |
rs62636495
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Sporadic cardiac and skeletal myopathy caused by a de novo desmin mutation.
|
10905661 |
2000 |
rs62636495
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Structural and functional analysis of a new desmin variant causing desmin-related myopathy.
|
11668632 |
2001 |