Human mutation missense. Medical search. Frequent questions

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Anatomy12

Cell Line COS Cells X Chromosome Cells, Cultured HEK293 Cells Fibroblasts HeLa Cells CHO Cells Cell Line, Tumor Chromosomes, Human, X Cell Nucleus Chromosomes, Human, Pair 17

Organisms11

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

Diseases39

Disease Models, Animal Syndrome Genetic Predisposition to Disease 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 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 Cell Transformation, Neoplastic Gonadal Dysgenesis, 46,XY Skin Abnormalities

Chemicals and Drugs66

Codon, Nonsense DNA Primers Codon DNA-Binding Proteins Mutant Proteins Transcription Factors Membrane Proteins DNA Nuclear Proteins Carrier Proteins Bacterial Proteins Eye Proteins DNA, Neoplasm RNA, Messenger DNA, Mitochondrial Recombinant Proteins 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 Glycine Escherichia coli Proteins Arginine Homeodomain Proteins MutS Homolog 2 Protein Ethyl Methanesulfonate Trans-Activators Adaptor Proteins, Signal Transducing Neoplasm Proteins Protein-Serine-Threonine Kinases DNA, Bacterial Nerve Tissue Proteins ras Proteins Adenosine Triphosphatases Alanine DNA Transposable Elements Sodium Channels NAV1.5 Voltage-Gated Sodium Channel Cytoskeletal Proteins Cysteine Serine Membrane Transport Proteins Cell Cycle Proteins Proline Cystic Fibrosis Transmembrane Conductance Regulator ATP-Binding Cassette Transporters Aspartic Acid Valine Connexins Lamin Type A Intracellular Signaling Peptides and Proteins Oligodeoxyribonucleotides

Analytical, Diagnostic and Therapeutic Techniques and Equipment28

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

Psychiatry and Psychology2

Family Intellectual Disability

Phenomena and Processes104

Mutation, Missense Mutation Point Mutation Heterozygote Exons Phenotype Amino Acid Substitution Base Sequence Amino Acid Sequence Frameshift Mutation Genome, Human Germ-Line Mutation Polymorphism, Single-Stranded Conformational Alleles Mutation Rate Codon, Nonsense Homozygote Genotype Genes, Recessive Genes, Dominant Mutagenesis Protein Structure, Tertiary Sequence Deletion Sequence Homology, Amino Acid Suppression, Genetic Codon Consanguinity Genetic Linkage Genetic Predisposition to Disease Genes, p53 Binding Sites Gene Deletion Founder Effect Protein Binding Polymorphism, Genetic Transfection Genetic Variation Introns Gene Frequency Plasmids Genes, BRCA1 Protein Conformation Transcription, Genetic Polymorphism, Single Nucleotide Genes, Lethal Microsatellite Repeats Mutagenesis, Insertional Conserved Sequence RNA Splicing RNA Splice Sites Structure-Activity Relationship Promoter Regions, Genetic Penetrance Genes, Bacterial Genes Signal Transduction Genes, Suppressor Exome Polymorphism, Restriction Fragment Length Genetic Heterogeneity Recombination, Genetic Kinetics Protein Structure, Secondary Genes, BRCA2 Temperature Gene Expression INDEL Mutation X Chromosome Evolution, Molecular Drug Resistance, Viral 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 Virus Replication Ultraviolet Rays Time Factors Open Reading Frames Sequence Homology, Nucleic Acid Catalytic Domain Chromosomes, Human, Pair 17 Transcriptional Activation Nucleic Acid Conformation Phylogeny

Disciplines and Occupations1

Immunohistochemistry

Anthropology, Education, Sociology and Social Phenomena1

Information Science4

Molecular Sequence Data Base Sequence Amino Acid Sequence Phylogeny

Named Groups3

Jews Asian Continental Ancestry Group Infant, Newborn

Health Care7

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

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

Mutation, Missense Mutation Point Mutation DNA Mutational Analysis Pedigree Molecular Sequence Data Heterozygote Exons Phenotype Amino Acid Substitution Base Sequence Amino Acid Sequence Frameshift Mutation Genome, Human Germ-Line Mutation Disease Models, Animal Mice, Transgenic Polymorphism, Single-Stranded Conformational Mice, Inbred C57BL Alleles Mutation Rate Codon, Nonsense Polymerase Chain Reaction Homozygote Genotype Genes, Recessive Sequence Analysis, DNA Mutagenesis, Site-Directed Genes, Dominant Mutagenesis Protein Structure, Tertiary Genetic Testing Sequence Deletion DNA Primers Syndrome Models, Molecular Sequence Homology, Amino Acid Suppression, Genetic Codon Chromosome Mapping Consanguinity Escherichia coli DNA-Binding Proteins Genetic Linkage Cell Line Sequence Alignment Mutant Proteins Genetic Predisposition to Disease Genes, p53 Binding Sites Gene Deletion Genetic Complementation Test Family Health Transcription Factors Founder Effect Membrane Proteins DNA Protein Binding Cloning, Molecular Polymorphism, Genetic Transfection Genetic Variation Saccharomyces cerevisiae Heterozygote Detection Introns Nuclear Proteins Gene Frequency Carrier Proteins Models, Genetic Genetic Diseases, X-Linked Abnormalities, Multiple Plasmids Genes, BRCA1 Bacterial Proteins COS Cells Age of Onset Eye Proteins Protein Conformation Retinitis Pigmentosa DNA, Neoplasm RNA, Messenger Transcription, Genetic Polymorphism, Single Nucleotide Genes, Lethal Microsatellite Repeats Eye Abnormalities Mutagenesis, Insertional Conserved Sequence DNA, Mitochondrial RNA Splicing Recombinant Proteins RNA Splice Sites Proteins Structure-Activity Relationship Ethylnitrosourea Proto-Oncogene Proteins B-raf Promoter Regions, Genetic Penetrance Genes, Bacterial Jews

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