Proteins linked to autosomal dominant and autosomal recessive disorders harbor characteristic rare missense mutation distribution patterns

Keyphrases

• Autosomal Dominant 100%
• Autosomal Recessive 100%
• Missense mutation 100%
• Distribution Pattern 100%
• Mutation Distribution 100%
• Missense Variants 42%
• Loss Function 28%
• Gain-of-function mutation 28%
• Wilcoxon 28%
• In Clustering 28%
• Clustering Pattern 28%
• Protein Domain 14%
• Mode of Inheritance 14%
• Protein Sequence 14%
• Gain-of-function 14%
• Disease Etiology 14%
• Autosomal Dominant Disorder 14%
• Unbiased Method 14%
• Disease Causation 14%

Biochemistry, Genetics and Molecular Biology

• Autosomal Dominant Inheritance 100%
• Autosomal Recessive Disorder 100%
• Missense Mutation 100%
• Missense 50%
• Autosomal Recessive Inheritance 50%
• Protein Domain 16%
• Loss of Function Mutation 16%
• Peptide Sequence 16%
• Gain of Function Mutation 16%