Gene s mutation missense. Medical search. Frequent questions

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Anatomy11

Cell Line COS Cells X Chromosome Cells, Cultured HEK293 Cells Fibroblasts HeLa Cells CHO Cells Cell Line, Tumor Chromosomes, Human, X Cell Nucleus

Organisms12

Cercopithecus aethiops Escherichia coli Mice, Transgenic HIV-1 Saccharomyces cerevisiae Mice, Mutant Strains Cricetinae Drosophila melanogaster Mice, Inbred C57BL Drosophila Caenorhabditis elegans Zebrafish

Diseases40

Pancreatitis, Alcoholic Genetic Predisposition to Disease Parkinson Disease Gait Ataxia Gaucher Disease Syndrome Genetic Diseases, X-Linked Abnormalities, Multiple Retinitis Pigmentosa Eye Abnormalities Osteochondrodysplasias Hearing Loss, Sensorineural Deafness Mental Retardation, X-Linked Intellectual Disability Ectodermal Dysplasia Craniofacial Abnormalities Genetic Diseases, Inborn Neoplastic Syndromes, Hereditary Colorectal Neoplasms, Hereditary Nonpolyposis Disease Models, Animal Chromosome Deletion Eye Diseases, Hereditary Breast Neoplasms Corneal Dystrophies, Hereditary Facies Charcot-Marie-Tooth Disease Cataract Cardiomyopathy, Hypertrophic Microphthalmos Ovarian Neoplasms Metabolism, Inborn Errors Long QT Syndrome Cerebellar Ataxia Noonan Syndrome Mitochondrial Diseases Colorectal Neoplasms Cardiomyopathy, Hypertrophic, Familial Hearing Loss Limb Deformities, Congenital

Chemicals and Drugs66

Ribosomal Proteins Trypsin Inhibitor, Kazal Pancreatic Serine Codon, Nonsense Glycine Glucosylceramidase DNA Primers Protein-Serine-Threonine Kinases DNA-Binding Proteins DNA Recombinant Proteins Cysteine Carbamates Codon Mutant Proteins Transcription Factors Membrane Proteins Nuclear Proteins Carrier Proteins Bacterial Proteins Eye Proteins DNA, Neoplasm RNA, Messenger DNA, Mitochondrial RNA Splice Sites Proteins Ethylnitrosourea Proto-Oncogene Proteins B-raf DNA, Complementary Proto-Oncogene Proteins Tumor Suppressor Protein p53 Saccharomyces cerevisiae Proteins Recombinant Fusion Proteins Repressor Proteins Mutagens BRCA2 Protein Tumor Suppressor Proteins Fungal Proteins BRCA1 Protein Codon, Terminator Genetic Markers Drosophila Proteins Escherichia coli Proteins Arginine Homeodomain Proteins MutS Homolog 2 Protein Ethyl Methanesulfonate Trans-Activators Adaptor Proteins, Signal Transducing Neoplasm Proteins DNA, Bacterial Nerve Tissue Proteins ras Proteins Adenosine Triphosphatases Alanine DNA Transposable Elements Sodium Channels NAV1.5 Voltage-Gated Sodium Channel Cytoskeletal Proteins Membrane Transport Proteins Cell Cycle Proteins Proline Cystic Fibrosis Transmembrane Conductance Regulator ATP-Binding Cassette Transporters Aspartic Acid Valine

Analytical, Diagnostic and Therapeutic Techniques and Equipment29

Amino Acid Substitution Pedigree DNA Mutational Analysis Mutagenesis, Site-Directed Polymerase Chain Reaction Genetic Testing Models, Molecular Sequence Analysis, DNA Sequence Alignment Transfection Chromosome Mapping Genetic Complementation Test Cloning, Molecular Heterozygote Detection Crystallography, X-Ray Models, Genetic Mutagenesis, Insertional Genetic Association Studies Crosses, Genetic Reverse Transcriptase Polymerase Chain Reaction Restriction Mapping Blotting, Western Immunohistochemistry Case-Control Studies Models, Biological Disease Models, Animal Facies Blotting, Southern Cohort Studies

Psychiatry and Psychology2

Family Intellectual Disability

Phenomena and Processes100

Mutation, Missense Mutation Point Mutation Base Sequence Amino Acid Substitution Frameshift Mutation Heterozygote Germ-Line Mutation Amino Acid Sequence Homozygote Phenotype Alleles Genotype Exons Protein Structure, Tertiary Genetic Predisposition to Disease Polymorphism, Single-Stranded Conformational Mutation Rate Mutagenesis Codon, Nonsense Gene Frequency Sequence Homology, Amino Acid Protein Binding Binding Sites Genes, Recessive Genes, Dominant Drug Resistance, Viral Insecticide Resistance Protein Conformation Sequence Deletion Polymorphism, Restriction Fragment Length Transfection Suppression, Genetic Codon Consanguinity Kinetics Structure-Activity Relationship Genetic Linkage Haplotypes Protein Structure, Secondary Genes, p53 Gene Deletion Founder Effect Virus Replication Polymorphism, Genetic Genetic Variation Introns Plasmids Genes, BRCA1 Transcription, Genetic Polymorphism, Single Nucleotide Genes, Lethal Microsatellite Repeats Mutagenesis, Insertional Conserved Sequence RNA Splicing RNA Splice Sites Promoter Regions, Genetic Penetrance Genes, Bacterial Genes Signal Transduction Genes, Suppressor Exome Genetic Heterogeneity Recombination, Genetic Genes, BRCA2 Temperature Gene Expression INDEL Mutation X Chromosome Evolution, Molecular Genes, Fungal DNA Repair Loss of Heterozygosity Protein Transport Selection, Genetic Codon, Terminator Genetic Markers Gene Expression Regulation Alternative Splicing Mosaicism Amino Acid Motifs Protein Stability Phosphorylation Protein Folding DNA Transposable Elements Drug Resistance, Microbial Chromosome Deletion Genes, Tumor Suppressor Gene Expression Regulation, Bacterial Genes, APC Base Pair Mismatch Dimerization Drug Resistance Chromosomes, Human, X Ultraviolet Rays Time Factors Open Reading Frames Sequence Homology, Nucleic Acid

Disciplines and Occupations1

Immunohistochemistry

Anthropology, Education, Sociology and Social Phenomena1

Information Science3

Molecular Sequence Data Base Sequence Amino Acid Sequence

Named Groups3

Jews Asian Continental Ancestry Group Infant, Newborn

Health Care7

Genetic Testing Age of Onset Family Health Temperature Case-Control Studies Cohort Studies Ultraviolet Rays

Geographicals1

Anatomy Organisms Diseases Chemicals and Drugs Analytical, Diagnostic and Therapeutic Techniques and Equipment Psychiatry and Psychology Phenomena and Processes Disciplines and Occupations Anthropology, Education, Sociology and Social Phenomena Information Science Named Groups Health Care Geographicals

Mutation, Missense Mutation Point Mutation Molecular Sequence Data Ribosomal Proteins Base Sequence Amino Acid Substitution Pedigree DNA Mutational Analysis Frameshift Mutation Heterozygote Trypsin Inhibitor, Kazal Pancreatic Germ-Line Mutation Amino Acid Sequence Pancreatitis, Alcoholic Mutagenesis, Site-Directed Homozygote Phenotype Alleles Genotype Polymerase Chain Reaction Exons Jews Serine Genetic Testing Protein Structure, Tertiary Models, Molecular Genetic Predisposition to Disease Sequence Analysis, DNA Polymorphism, Single-Stranded Conformational Parkinson Disease Gait Ataxia Mutation Rate Mutagenesis Codon, Nonsense Gaucher Disease Glycine Cell Line Gene Frequency Age of Onset Glucosylceramidase Sequence Homology, Amino Acid Protein Binding DNA Primers Binding Sites Genes, Recessive Protein-Serine-Threonine Kinases Sequence Alignment Genes, Dominant DNA-Binding Proteins Drug Resistance, Viral DNA COS Cells Insecticide Resistance Protein Conformation Romania Recombinant Proteins Cysteine Sequence Deletion Polymorphism, Restriction Fragment Length Transfection Carbamates Syndrome Suppression, Genetic Codon Chromosome Mapping Consanguinity Kinetics Cercopithecus aethiops Structure-Activity Relationship Escherichia coli Genetic Linkage Haplotypes Mutant Proteins Protein Structure, Secondary Genes, p53 Gene Deletion Genetic Complementation Test Family Health Transcription Factors Founder Effect Membrane Proteins Cloning, Molecular Virus Replication Mice, Transgenic Polymorphism, Genetic HIV-1 Genetic Variation Saccharomyces cerevisiae Heterozygote Detection Crystallography, X-Ray Introns Nuclear Proteins Carrier Proteins Models, Genetic Genetic Diseases, X-Linked Abnormalities, Multiple Plasmids Genes, BRCA1 Bacterial Proteins

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