Consequences of missense mutations. Medical search. Frequent questions

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

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

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Syndrome Genetic Predisposition to Disease Abnormalities, Multiple Genetic Diseases, X-Linked Eye Abnormalities Retinitis Pigmentosa Mental Retardation, X-Linked Hearing Loss, Sensorineural Deafness Osteochondrodysplasias Intellectual Disability Ectodermal Dysplasia Gonadal Dysgenesis, 46,XY Craniofacial Abnormalities Cerebellar Ataxia Cataract Disease Models, Animal Hypotrichosis Microphthalmos Cardiomyopathy, Hypertrophic Metabolism, Inborn Errors Blepharophimosis Eye Diseases, Hereditary Afibrinogenemia Long QT Syndrome 46, XY Disorders of Sex Development Facies Hearing Loss Tooth Abnormalities Synostosis Muscular Diseases Colorectal Neoplasms, Hereditary Nonpolyposis Cardiomyopathy, Hypertrophic, Familial Charcot-Marie-Tooth Disease Corneal Dystrophies, Hereditary Aniridia Neoplastic Syndromes, Hereditary Skin Diseases, Genetic Hyperlipoproteinemia Type I Genetic Diseases, Inborn Craniosynostoses Anophthalmos Noonan Syndrome Skin Abnormalities Limb Deformities, Congenital Breast Neoplasms Pain Insensitivity, Congenital Bone Diseases, Developmental Pelizaeus-Merzbacher Disease Retinoschisis Ataxia Muscular Dystrophies Myotonia Congenita Chromosome Deletion Amino Acid Metabolism, Inborn Errors

Chemicals and Drugs62

Codon, Nonsense DNA Primers Mutant Proteins Codon DNA-Binding Proteins Membrane Proteins Transcription Factors DNA Carrier Proteins Nuclear Proteins Eye Proteins RNA, Messenger Proteins Ethylnitrosourea Recombinant Proteins RNA Splice Sites DNA, Complementary DNA, Neoplasm Bacterial Proteins Tumor Suppressor Protein p53 DNA, Mitochondrial Repressor Proteins Tumor Suppressor Proteins Glycine Recombinant Fusion Proteins Proto-Oncogene Proteins Homeodomain Proteins Arginine Saccharomyces cerevisiae Proteins MutS Homolog 2 Protein Sodium Channels Codon, Terminator Nerve Tissue Proteins Proto-Oncogene Proteins B-raf Fungal Proteins Adaptor Proteins, Signal Transducing Genetic Markers BRCA1 Protein Drosophila Proteins NAV1.5 Voltage-Gated Sodium Channel Trans-Activators Protein-Serine-Threonine Kinases Neoplasm Proteins Mutagens Adenosine Triphosphatases Alanine Cytoskeletal Proteins Ethyl Methanesulfonate BRCA2 Protein Connexins NAV1.1 Voltage-Gated Sodium Channel Lamin Type A gamma-Crystallins Escherichia coli Proteins Cysteine Protein Isoforms Proline Serine ATP-Binding Cassette Transporters Cell Cycle Proteins DNA, Bacterial Membrane Transport Proteins

Analytical, Diagnostic and Therapeutic Techniques and Equipment27

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

Psychiatry and Psychology3

Family Intellectual Disability 46, XY Disorders of Sex Development

Phenomena and Processes90

Mutation, Missense Point Mutation Mutation Frameshift Mutation Exons Base Sequence Amino Acid Sequence Germ-Line Mutation Heterozygote Amino Acid Substitution Phenotype Polymorphism, Single-Stranded Conformational Homozygote Codon, Nonsense Alleles Genes, Recessive Genes, Dominant Genotype Consanguinity Protein Structure, Tertiary Sequence Homology, Amino Acid Mutation Rate Genetic Linkage Sequence Deletion Mutagenesis Codon Genetic Predisposition to Disease Suppression, Genetic Protein Binding Gene Deletion Genes, p53 Transfection Binding Sites Polymorphism, Genetic Exome Introns Founder Effect Genetic Variation Protein Conformation Conserved Sequence Gene Frequency Polymorphism, Single Nucleotide RNA Splicing Microsatellite Repeats RNA Splice Sites Transcription, Genetic Plasmids Signal Transduction Genetic Heterogeneity Structure-Activity Relationship Gene Expression Genes, BRCA1 Penetrance X Chromosome Protein Structure, Secondary Kinetics Protein Transport Mutagenesis, Insertional Polymorphism, Restriction Fragment Length Promoter Regions, Genetic Genes, Lethal Haplotypes Temperature Protein Stability Genes Genes, Bacterial Protein Folding Alternative Splicing Gene Expression Regulation Loss of Heterozygosity Genes, Suppressor Codon, Terminator Recombination, Genetic Genetic Markers Time Factors DNA Repair Genes, Tumor Suppressor Evolution, Molecular Chromosomes, Human, X Phosphorylation Genes, BRCA2 Genes, Fungal Mosaicism Selection, Genetic Lod Score Amino Acid Motifs Chromosomes, Human, Pair 17 Chromosome Deletion Genes, X-Linked Transcriptional Activation

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Immunohistochemistry

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Molecular Sequence Data Base Sequence Amino Acid Sequence

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Asian Continental Ancestry Group Jews Infant, Newborn

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

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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 Point Mutation Mutation Pedigree DNA Mutational Analysis Frameshift Mutation Molecular Sequence Data Exons Base Sequence Amino Acid Sequence Germ-Line Mutation Heterozygote Amino Acid Substitution Phenotype Polymorphism, Single-Stranded Conformational Homozygote Codon, Nonsense Alleles Polymerase Chain Reaction Genes, Recessive Genes, Dominant Genotype Sequence Analysis, DNA Syndrome Consanguinity Protein Structure, Tertiary Mutagenesis, Site-Directed Sequence Homology, Amino Acid Mutation Rate DNA Primers Models, Molecular Genetic Linkage Sequence Deletion Sequence Alignment Genetic Testing Family Health Chromosome Mapping Mutagenesis Mutant Proteins Codon Cell Line DNA-Binding Proteins Genetic Predisposition to Disease Abnormalities, Multiple Suppression, Genetic Protein Binding Membrane Proteins Gene Deletion Genetic Diseases, X-Linked Transcription Factors DNA Genes, p53 Transfection Binding Sites Polymorphism, Genetic Escherichia coli Eye Abnormalities COS Cells Genetic Complementation Test Cloning, Molecular Carrier Proteins Exome Introns Founder Effect Age of Onset Genetic Variation Heterozygote Detection Nuclear Proteins Eye Proteins Retinitis Pigmentosa Protein Conformation RNA, Messenger Conserved Sequence Saccharomyces cerevisiae Gene Frequency Models, Genetic Proteins Polymorphism, Single Nucleotide Ethylnitrosourea RNA Splicing Microsatellite Repeats Mental Retardation, X-Linked Recombinant Proteins RNA Splice Sites Genetic Association Studies DNA, Complementary Transcription, Genetic Plasmids Hearing Loss, Sensorineural Signal Transduction Genetic Heterogeneity DNA, Neoplasm Asian Continental Ancestry Group Bacterial Proteins Structure-Activity Relationship Gene Expression Cercopithecus aethiops Family Deafness Genes, BRCA1

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