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Academic journal
Human Mutation is a peer-reviewed medical journal of human genetics published by Wiley-Liss on behalf of the Human Genome Variation Society. It first appeared
Human_Mutation
Alteration in the nucleotide sequence of a genome
biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Mutations result from
Mutation
Measure in population genetics
accumulation of mutation load, culminating in extinction via mutational meltdown. The accumulation of deleterious mutations in humans has been of concern
Genetic_load
Rate at which mutations occur during some unit of time
single type of mutation; there are many different types of mutations. Mutation rates are given for specific classes of mutations. Point mutations are a class
Mutation_rate
Genetic point mutation that results in an amino acid change in a protein
notable examples of human diseases caused by missense mutations are Rett syndrome, cystic fibrosis, and sickle-cell disease. Missense mutation refers to a change
Missense_mutation
Haplogroup defined by differences in human mitochondrial DNA
"Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation". Human Mutation. 30 (2): E386–94. doi:10.1002/humu.20921. PMID 18853457
Human mitochondrial DNA haplogroup
Human_mitochondrial_DNA_haplogroup
Australian geneticist (1940–2015)
pioneer in the field of Mutation Detection, developing methods for the chemical and enzymatic detection of human genetic mutations. Cotton was one of the
Richard_Cotton_(geneticist)
Replacement, insertion, or deletion of a single DNA or RNA nucleotide
A point mutation is a genetic mutation where a single nucleotide base is changed, inserted or deleted from a DNA or RNA sequence of an organism's genome
Point_mutation
Type of mutation in a DNA sequence
In genetics, a nonsense mutation is a point mutation in a sequence of DNA that results in a nonsense codon, or a premature stop codon in the transcribed
Nonsense_mutation
Human DNA groupings
In human genetics, a human Y-chromosome DNA haplogroup is a haplogroup defined by specific mutations in the non-recombining portions of DNA on the male-specific
Human Y-chromosome DNA haplogroup
Human_Y-chromosome_DNA_haplogroup
Mutation that shifts codon alignment
A frameshift mutation (also called a framing error or a reading frame shift) is a genetic mutation caused by indels (insertions or deletions) of a number
Frameshift_mutation
Group of similar haplotypes
haplogroup. All humans carrying mutation A form a single haplogroup, and all humans carrying mutation B are part of this haplogroup, but mutation B also defines
Haplogroup
Type of mutation on somatic cell
somatic mutation is a change in the DNA sequence of a somatic cell of a multicellular organism with dedicated reproductive cells; that is, any mutation that
Somatic_mutation
Form of albinism
B (February 2004). "Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4". Human Mutation. 23 (2): 106–110. doi:10
Oculocutaneous_albinism
Human hybridization during the Paleolithic
Scally, A.; Durban, R. (2012). "Revising the human mutation rate: implications for understanding human evolution". Nature Reviews Genetics. 13 (10):
Interbreeding between archaic and modern humans
Interbreeding_between_archaic_and_modern_humans
Inherited genetic variation
germline mutation, or germinal mutation, is any detectable variation within germ cells (cells that, when fully developed, become sperm and ova). Mutations in
Germline_mutation
Protein found in humans
"Concentration of mutations causing Schmid metaphyseal chondrodysplasia in the C-terminal noncollagenous domain of type X collagen". Human Mutation. 5 (2): 121–125
Collagen,_type_X,_alpha_1
Group of comics characters
Captain America, Fantastic Four, Hulk), mutants have innate genetic mutations from birth. Officially, Namor the Sub-Mariner is considered the first
Mutant_(Marvel_Comics)
Rare genetic disorder
multiple epiphyseal dysplasia: Mutation review, molecular interactions, and genotype to phenotype correlations". Human Mutation. 19 (5): 465–478. doi:10.1002/humu
Multiple_epiphyseal_dysplasia
Autosomal dominant cancer syndrome
Human Mutation. 40 (1): 97–105. doi:10.1002/humu.23673. PMC 6296902. PMID 30352134. Mole B (10 December 2025). "Sperm donor with rare cancer mutation
Li–Fraumeni_syndrome
Genetic diversity in human populations
two humans are genetically identical. Even monozygotic twins (who develop from one zygote) have infrequent genetic differences due to mutations occurring
Human_genetic_variation
Biological evolution of Homo sapiens from 50,000 years ago until present
that a mutation in the gene OCA2 is responsible for this trait. According to them, all humans initially had brown eyes and the OCA2 mutation took place
Recent_human_evolution
Allele equilibrium in a population when creation equals elimination by negative selection
Mutation–selection balance is an equilibrium in the number of deleterious alleles in a population that occurs when the rate at which deleterious alleles
Mutation–selection_balance
Congenital disorder of nervous system
"Identification of novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger spectrum patients". Human Mutation. 27 (11): 1157. doi:10.1002/humu
Zellweger_syndrome
Complete set of nucleic acid sequences for humans
nonfunctional through the accumulation of inactivating mutations. The number of pseudogenes in the human genome is on the order of 13,000, and in some chromosomes
Human_genome
Genetic condition involving hearing loss and depigmentation
Bondurand, Nadège (2010). "Review and update of mutations causing Waardenburg syndrome". Human Mutation. 31 (4): 391–406. doi:10.1002/humu.21211. ISSN 1098-1004
Waardenburg_syndrome
Archaological dating based on mutation rate
The human mitochondrial molecular clock is the rate at which mutations have been accumulating in the mitochondrial genome of hominids during the course
Human mitochondrial molecular clock
Human_mitochondrial_molecular_clock
Medical condition
(2017). "The novel αB-crystallin (CRYAB) mutation p.D109G causes restrictive cardiomyopathy". Human Mutation. 38 (8): 947–952. doi:10.1002/humu.23248
Restrictive_cardiomyopathy
Terminal recessive genetic condition
"Lafora progressive Myoclonus Epilepsy mutation database - EPM2A and NHLRC1 (EPM2B) genes". Human Mutation. 26 (4): 397. doi:10.1002/humu.9376. PMID 16134145
Lafora_disease
Mammalian protein found in Homo sapiens
341 mutations in human OTC have been reported. At least 259 of these mutations are considered to be disease-causing mutations. 149 of these mutations are
Ornithine_transcarbamylase
Syndrome caused by chromosomal deletion
microdeletions in neurofibromatosis type 1: from genotype to phenotype". Human Mutation. 31 (6): E1506-18. doi:10.1002/humu.21271. PMID 20513137. S2CID 24525378
Microdeletion_syndrome
Human disease-causing mutation
Recommendations for the Description of Sequence Variants: 2016 Update". Human Mutation. 37 (6): 564–9. doi:10.1002/humu.22981. hdl:11343/291098. PMID 26931183
HFE_H63D_gene_mutation
Medical condition
novel ZRS mutation leads to preaxial polydactyly type 2 in a heterozygous form and Werner mesomelic syndrome in a homozygous form". Human Mutation. 35 (8):
Familial opposable triphalangeal thumbs duplication
Familial_opposable_triphalangeal_thumbs_duplication
Tumor or other abnormal growth of tissue
frequency of about 70 new mutations in the entire genome between generations (parent to child) in humans. The high frequencies of mutations in the total nucleotide
Neoplasm
Medical condition
"Identification of novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger spectrum patients". Human Mutation. 27 (11): 1157. doi:10.1002/humu
Infantile_Refsum_disease
organisms, occasionally have mutations that affect their body type. Sometimes, these mutations are striking enough that humans select for and perpetuate
List of cat body-type mutations
List_of_cat_body-type_mutations
Protein-coding gene in humans
Certain mutations in OCA2 result in type 2 oculocutaneous albinism. OCA2 encodes the human homologue of the mouse p (pink-eyed dilution) gene. The human OCA2
P_protein
Geneticist and evolutionary biologist (1892–1964)
pioneering methods for estimating human mutation rates; the first estimates of mutation rate in humans (2 × 10−5 mutations per gene per generation for the X-linked
J._B._S._Haldane
Gene known for its role in breast cancer
Antonarakis SE (2000). "Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion". Human Mutation. 15 (1): 7–12. doi:10
BRCA1
Transcription factor gene of the forkhead box family
required for the proper development of speech and language in humans. In humans, mutations in FOXP2 cause the severe speech and language disorder developmental
FOXP2
Open source database
been screened for mutations and one has been found, information in LOVD can predict the progress of the disease. In contrast to human genome databases
Leiden Open Variation Database
Leiden_Open_Variation_Database
One of several alternatives to evolution by natural selection
Mutationism is one of several alternatives to evolution by natural selection that have existed both before and after the publication of Charles Darwin's
Mutationism
B. L. (2018). "ClinVar at five years: delivering on the promise". Human Mutation. 39 (11): 1623–1630. doi:10.1002/humu.23641. PMC 11567647. PMID 30311387
ClinVar
Mutation at a location where intron splicing takes place
A splice site mutation is a genetic mutation that inserts, deletes or changes a number of nucleotides in the specific site at which splicing takes place
Splice_site_mutation
Topics referred to by the same term
refer to: Mutation (novel), a 1990 medical thriller by Robin Cook Savage Land Mutates, a group of mutants in Marvel Comics Human Mutation, a peer-reviewed
Mutation_(disambiguation)
Influence of a single gene on multiple phenotypic traits
that has such multiple effects is referred to as a pleiotropic gene. Mutations in pleiotropic genes can affect several traits simultaneously, often because
Pleiotropy
1974 British-American film by Jack Cardiff
The Mutations (also known as The Mutation, The Freaks, and The Freakmaker) is a low-budget 1974 British-American science fiction/horror film directed
The_Mutations
2017 studio album by Archspire
Relentless Mutation is the third studio album by the Canadian technical death metal band Archspire, released on September 22, 2017 through Season of Mist
Relentless_Mutation
Permanent bending of a finger or toe
contractural arachnodactyly: Report of 14 novel mutations and review of the literature". Human Mutation. 30 (3): 334–41. doi:10.1002/humu.20854. PMID 19006240
Camptodactyly
Medical condition
BRCA mutation is a mutation in either of the BRCA1 and BRCA2 genes, which are tumour suppressor genes. Hundreds of different types of mutations in these
BRCA_mutation
Sections of the genome experiencing minimal changes across species
conservative models for neutral mutation rates. This fold change difference in mutation rates was consistent between humans, chimpanzees, and chickens. Ultraconserved
Ultraconserved_element
Study of the human mitochondrial genome
carried by each mitochondrion (2–10 in humans), mitochondrial mutations can be inherited maternally by mtDNA mutations which are present in mitochondria inside
Human_mitochondrial_genetics
Science of genes, heredity and variation
Environment plays a major role in effects of the human genetic disease phenylketonuria. The mutation that causes phenylketonuria disrupts the ability
Genetics
Protein-coding gene in the species Homo sapiens
muscular dystrophy and Duchenne muscular dystrophy. Mutations in Filamin C have been associated with human hypertrophic cardiomyopathy, dilated cardiomyopathy
Filamin-C
Physical substance of the human organism
The human body is the entire structure of a human being. It is composed of many different types of cells that together create tissues and subsequently
Human_body
Medical condition
the phenotype of X-linked SSR4-CDG: Connective tissue implications". Human Mutation. 42 (2): 142–149. doi:10.1002/humu.24151. PMID 33300232. S2CID 228087106
Congenital disorder of glycosylation
Congenital_disorder_of_glycosylation
Protein-coding gene in the species Homo sapiens
mRNA deficiency caused by the most common Tay-Sachs disease mutation". American Journal of Human Genetics. 56 (3): 716–724. PMC 1801160. PMID 7887427. Taniike
HEXA
Medical condition
Fu reported additional studies of the human Per2 S662G mutation and generation of mice carrying the human mutation. These mice had a circadian period almost
Advanced_sleep_phase_disorder
an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1". Human Mutation. 6 (1): 66–73. doi:10
Fumarylacetoacetate_hydrolase
Mutation that removes a part of a DNA sequence
deletion (also called gene deletion, deficiency, or deletion mutation) (sign: Δ) is a mutation (a genetic aberration) in which a part of a chromosome or
Deletion_(genetics)
Class of enzymes
disease-causing mutations in this gene have been discovered. Iduronate-2-sulfatase has a strong sequence homology with human arylsulfatases A, B, and C, and human
Iduronate-2-sulfatase
Mobile genetic element in the primate genome (including human genome)
methylation sites in the human genome. Alu elements are also a common source of mutations in humans; however, such mutations are often confined to non-coding
Alu_element
Deterioration of function with age
research into delaying senescence and thus age-related diseases. Rare human mutations can cause accelerated aging diseases. Environmental factors may affect
Senescence
technique by using this enzyme to detect a variety of mutations and polymorphisms in the human BRCA1 gene. While monitoring the purification of CEL I
Surveyor_nuclease_assay
Study of inheritance in domestic cats
originally developed for use in humans, as well as the use of cats in the study of the human diseases. An example of a mutation that is shared among all felines
Cat_genetics
Medical condition
syndrome: clinical score and further delineation of the TCF4 mutational spectrum". Human Mutation. 33 (1): 64–72. doi:10.1002/humu.21639. PMID 22045651. S2CID 9559486
Pitt–Hopkins_syndrome
Stylianos E. (2000). "Mutation Nomenclature Extensions and Suggestions to Describe Complex Mutations: A Discussion". Human Mutation. 15 (1): 7–12. doi:10
Mutalyzer
Failure of the forebrain to develop into two hemispheres during embryonic growth
et al. (November 2017). "BOC is a modifier gene in holoprosencephaly". Human Mutation. 38 (11): 1464–1470. doi:10.1002/humu.23286. PMC 5673120. PMID 28677295
Holoprosencephaly
Polygenic phenotypic characteristic
Copenhagen located a single mutation that causes the phenomenon of blue eyes. The research was published in the Journal of Human Genetics. The same DNA sequence
Eye_color
Congenital disorder
Waardenburg syndrome type 1 is a congenital disorder that caused by a mutation in the PAX3 gene that results in abnormal development in the neural crest
Waardenburg_syndrome_type_1
Medical condition
"Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria". Human Mutation. 15 (3): 280–7. doi:10
Methylenetetrahydrofolate reductase deficiency
Methylenetetrahydrofolate_reductase_deficiency
Mammalian protein found in Homo sapiens
galactosemia, including a novel mutation of F294Y. Mutation in brief no. 235. Online". Human Mutation. 13 (4): 339. doi:10.1002/(SICI)1098-1004(1999)13
Galactose-1-phosphate uridylyltransferase
Galactose-1-phosphate_uridylyltransferase
Rare disorder linked to overgrowth and is characterized by dysmorphic facial features
et al. (June 2017). "Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome". Human Mutation. 38 (6): 637–648. doi:10
Cohen–Gibson_syndrome
Single nucleotide in genomic DNA at which different sequence alternatives exist
protein variation detection The Human Gene Mutation Database provides gene mutations causing or associated with human inherited diseases and functional
Single-nucleotide polymorphism
Single-nucleotide_polymorphism
Prion disease of the human brain
of cases are familial (fatal familial insomnia [FFI]), stemming from a mutation in the PRNP gene, with the remainder of cases occurring sporadically (sporadic
Fatal_insomnia
Rare, severe disease of lysosomal storage
different mutations had been identified in the human HEXA gene. These mutations have included single base insertions and deletions, splice phase mutations, missense
Tay–Sachs_disease
Evolutionary process
their parents suggests a mutation rate of only 36 mutations per generation; this datum extends the separation between humans and chimpanzees to an earlier
Human_evolution
Skin cancer originating in melanocytes
a transcription factor involved in apoptosis and in 50% of human cancers. Another mutation in the same gene results in a nonfunctional inhibitor of CDK4
Melanoma
Mammalian protein found in Homo sapiens
catalyzes the isomerization of methylmalonyl-CoA to succinyl-CoA in humans. Mutations in MUT gene may lead to various types of methylmalonic aciduria. MCM was
Methylmalonyl-CoA_mutase
Rules by which information encoded within genetic material is translated into proteins
novel frameshift mutations causing premature stop codons in a patient with the severe form of Maroteaux-Lamy syndrome". Human Mutation. 7 (4): 361–363
Genetic_code
American superhero television series
Ninja Turtles: The Next Mutation is an American television series produced by Saban Entertainment. It is the only live-action television series in the
Ninja Turtles: The Next Mutation
Ninja_Turtles:_The_Next_Mutation
Cholesterol-transporting protein most notably implicated in Alzheimer's disease
by-product of non-synonymous mutations which led to changes in functionality. The first allele to emerge was E4. After the primate–human split, there were four
Apolipoprotein_E
American plant geneticist
minimal rate of human mutation is estimated to be 100 new mutations per generation. According to Sanford, Kimura's curve shows that most mutations have a near-neutral
John_C._Sanford
Benign smooth-muscle tumors of the uterus
Bützow R, et al. (Sep 2014). "Mutations in Exon 1 highlight the role of MED12 in uterine leiomyomas". Human Mutation. 35 (9): 1136–41. doi:10.1002/humu
Uterine_fibroid
Human Y-chromosome DNA haplogroup
Microsatellite-Network-Based Approach Through Six New Biallelic Markers", Human Mutation, 27 (8): 831–2, doi:10.1002/humu.9445, PMID 16835895, S2CID 26886757
Haplogroup_E-M215
Human mitochondrial DNA grouping indicating common ancestry
"Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation". Human Mutation. 30 (2): E386–94. doi:10.1002/humu.20921. PMID 18853457
Haplogroup_L0
Highly polymorphic DNA region
Amos W (September 2010). "Mutation biases and mutation rate variation around very short human microsatellites revealed by human-chimpanzee-orangutan genomic
Hypervariable_region
Medical condition
October 2012). "Kohlschütter-Tönz Syndrome: Mutations in ROGDI and Evidence of Genetic Heterogeneity". Human Mutation. 34 (2): 296–300. doi:10.1002/humu.22241
Kohlschütter–Tönz_syndrome
Medical condition
growth factor receptor 3 (FGFR3) signaling in skeletal dysplasias". Human Mutation. 33 (1): 29–41. doi:10.1002/humu.21636. ISSN 1059-7794. PMC 3240715
Hypochondroplasia
Genetic mutation not inherited from a parent
A de novo mutation is a newly present mutation in an individual organism. These may occur in gametogenesis due to a germline mutation in a parent, or
De_novo_mutation
Range of genetic disorders which cause a person to appear to grow older faster
caused by genomic instability and increased rates of mutation. There are five genes encoding RecQ in humans (RECQ1-5), and defects in RECQL2/WRN, RECQL3/BLM
Progeroid_syndromes
Mammalian protein found in Homo sapiens
incorporation of one oxygen atom into BH4 and phenylalanine substrate. In humans, mutations in its encoding gene, PAH, can lead to the metabolic disorder phenylketonuria
Phenylalanine_hydroxylase
Medical condition
Ashkenazi Jewish population and the identification of 3 novel MCOLN1 mutations". Human Mutation. 26 (6): 591. doi:10.1002/humu.9385. PMID 16287144. Bargal, Ruth;
Mucolipidosis_type_IV
Protein-coding gene in the species Homo sapiens
(coagulation). In humans, mutations in this gene can be associated with deficiencies in vitamin-K-dependent clotting factors. The human gene is located
VKORC1
Measurement of the human penis
Human penis size varies on a number of measures, including length and circumference when flaccid and erect. Besides the natural variability of human penises
Human_penis_size
Protein-coding gene in the species Homo sapiens
enzyme that in humans is encoded by the SGSH gene. A number sign (#) is used with this entry because the phenotype is caused by mutation in the gene encoding
SGSH
been used to discover splice sites and disease-causing splice site mutations in the human genome, and has become a standard tool in clinical genomics. The
Shapiro–Senapathy_algorithm
to a pattern of mutations made in the laboratory by a known mutagen and not made by other mutagens – unique to the mutagen as a human signature is unique
Mutational_signatures
Medical condition
hadn’t been identified. The mutation in mice that causes CATSHL-like symptoms was described by Colvin et al in 1996. First human cases have been reported
Camptodactyly, tall stature, and hearing loss syndrome
Camptodactyly,_tall_stature,_and_hearing_loss_syndrome
Genetic gastrointestinal disorder
syndrome) is a genetic disorder due to an autosomal recessive mutation on chromosome 7. The mutation is in downregulated-in-adenoma (DRA), a gene that encodes
Congenital_chloride_diarrhea
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