The A31P missense mutation in cardiac myosin binding protein C alters protein structure but does not cause haploinsufficiency

Medicine & Life Sciences

• Alanine 8%
• Amino Acid Substitution 17%
• Antibodies 4%
• Cardiac Myosins 90%
• Cats 19%
• Digestion 7%
• Genes 3%
• Haploinsufficiency 80%
• Hypertrophic Cardiomyopathy 26%
• Missense Mutation 65%
• Muscle Cells 7%
• Mutant Proteins 8%
• Mutation 30%
• Myocardium 13%
• myosin-binding protein C 100%
• Nonsense Codon 9%
• Peptides 5%
• Poisons 5%
• Proline 8%
• Proteins 23%
• Recombinant Proteins 7%
• Sarcomeres 10%
• Trypsin 8%
• Western Blotting 5%

Chemical Compounds

• Acid 5%
• Alanine 7%
• Amount 6%
• Mutation 53%
• Poison 9%
• Polypeptide 6%
• Proline 8%
• Protein 9%
• Protein C 86%
• Protein Structure 61%
• Substitution Reaction 9%
• Trypsin 7%