In silico structural and biochemical functional analysis of a novel cyp21a2 pathogenic variant

Keyphrases

• Functional Analysis 100%
• Pathogenic Variants 100%
• Structure Prediction 100%
• In Silico 100%
• CYP21A2 100%
• Congenital Adrenal Hyperplasia 100%
• Amino Acids 50%
• Gene Sequencing 50%
• Enzymatic Activity 50%
• Life-limiting Conditions 50%
• Protein Level 50%
• Genetic Variants 50%
• Functional Traits 50%
• Reduced Protein 50%
• Manual Inspection 50%
• Evolutionary Analysis 50%
• In Silico Analysis 50%
• Hydroxylase 50%
• Computational Analysis 50%
• Molecular Characteristics 50%
• In Vitro Techniques 50%
• Protein Data Bank 50%
• Mutant Protein 50%
• Functional Relevance 50%
• Sanger Sequencing 50%
• Neonatal Period 50%
• Biochemical Assessment 50%
• Biochemical Studies 50%
• Rotatory 50%
• Information Prediction 50%
• CYP21A2 Gene 50%
• Salt Wasting 50%
• Evolutionary Structure 50%
• Single Amino Acid 50%
• Evolutionary Information 50%
• Ligation 50%
• Novel Pathogenic Variant 50%
• Ambiguous Genitalia 50%
• 46,XX 50%
• Probe Analysis 50%
• Multiplex 50%
• Steroid 21-hydroxylase 50%

Medicine and Dentistry

• In Silico 100%
• In Vitro 66%
• Amino Acid 66%
• Congenital Adrenal Hyperplasia 66%
• Enzyme Activity 33%
• Genetic Variability 33%
• Allele 33%
• Neonatal Infant 33%
• Ligation 33%
• Newborn Period 33%
• 21-Hydroxylase 33%
• Sanger Sequencing 33%
• Ambiguous Genitalia 33%
• Salt Wasting 33%
• Oxygenase 33%

Biochemistry, Genetics and Molecular Biology

• Computer Model 100%
• Amino Acids 66%
• Structure Prediction 66%
• Genetic Divergence 33%
• Gene Sequence 33%
• Allele 33%
• Enzyme Activity 33%
• Wild Type 33%
• Oxygenase 33%
• Protein Data Bank 33%
• Sanger Sequencing 33%
• Newborn Period 33%
• 21-Hydroxylase 33%