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SiMPLOD Statistics

All SiMPLOD entries 2958
   
Gene affected  
  LH1/PLOD1 variants 1079
  LH2(a/b)/PLOD2(a/b) variants 835
  LH3/PLOD3 variants 1037
  L230 variants 7
   
Variant type  
  Point mutations (yielding synonymous aminoacids) 383
  Point mutations (yielding non synonymous aminoacids) 2304
  Deletions, duplications, frame shifts, truncations 271
   
Implication in disease
  Biochemical variants 59
  SNPs without additional phenotype annotations 2415
  Benign 34
  Likely benign 108
  Benign/Likely benign 13
  Uncertain significance 240
  Conflicting interpretations of pathogenicity 28
  Likely pathogenic 10
  Pathogenic/Likely pathogenic 1
  Pathogenic 49
   
Disease phenotype
  Ehlers-Danlos Syndrome (type VIa), hydroxylysine-deficient 216
  Ehlers-Danlos Syndrome, cardiovascular phenotype 17
  Bruck Syndrome (Type II) 29
  Connective tissue disorder (similar to osteogenesis imperfecta) 8
  Other disease phenotypes (as of ClinVar annotation) 2
   
Implications on protein molecular structures
  Variations unlikely to be compatible with folded LH enzymes 289
  Variations possibly compatible with folded LH enzymes 2241
  Variations confirmed yielding folded LH enzymes 445
   
Available literature support
  Variations described in publications 114
  Variations without supporting publications 2844

Thank you for using SiMPLOD - Created by Fornerislab@UniPV  - Last curated update: 2021-09-24 11:38:14
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