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*  Missense mutation
In genetics, a missense mutation is a point mutation in which a single nucleotide change results in a codon that codes for a ... Missense mutation or substitution refers to a change in one amino acid in a protein, arising from a point mutation in a single ... Missense mutations can render the resulting protein nonfunctional, and such mutations are responsible for human diseases such ... this would be a silent mutation (a type of synonymous substitution, which is not always silent) and not a missense mutation. ...
*  POLD1
The POLD1 missense mutation p. S478N, in the exonuclease domain, has been validated as damaging and pathogenic. Other POLD1 ... Another recent study showed that mutations affecting Polδ and Polε mutations can co-occur along with MMR mutations. This ... POLD1 mutations have been studied in cell lines and mouse models. For example, a homozygous Polδ mutation in mice that disrupts ... For families with known mutations, single site testing is also available to confirm the presence of a mutation. The ...
*  Rab escort protein 1
Donnelly P, Menet H, Fouanon C, Herbert O, Moisan JP, Le Roux MG, Pascal O (1994). "Missense mutation in the choroideremia gene ... Mutations in this gene are a cause of choroideremia; also known as tapetochoroidal dystrophy (TCD). This X-linked disease is ... Schwartz M, Rosenberg T, van den Hurk JA, van de Pol DJ, Cremers FP (1993). "Identification of mutations in Danish ... "Detection and characterization of point mutations in the choroideremia candidate gene by PCR-SSCP analysis and direct DNA ...
*  Causes of Parkinson's disease
Missense mutations in SNCA are rare. On the other hand, multiplications of the SNCA locus account for around 2% of familial ... Missense mutations of the gene (in which a single nucleotide is changed), and duplications and triplications of the locus ... In patients with Parkinson's disease, the OR for carrying a GBA mutation was 5·43 (95% CI 3·89-7·57), confirming that mutations ... A significant number of autosomal-dominant Parkinson's disease cases are associated with mutations in the LRRK2 gene Mutations ...
*  Proline oxidase
"Functional consequences of PRODH missense mutations". American Journal of Human Genetics. 76 (3): 409-20. doi:10.1086/428142. ... Mutations in the PRODH gene are associated with Proline Dehydrogenase deficiency. Many case studies have reported on this ... All patients had biallelic mutations in the PRODH gene, often with several variants on the same allele. Residual enzyme ... "PRODH mutations and hyperprolinemia in a subset of schizophrenic patients". Human Molecular Genetics. 11 (19): 2243-9. doi: ...
*  Tuberous sclerosis
No missense mutations occur in TSC1. In TSC2, the gene abnormalities are on chromosome 16p13. This gene encodes tuberin, a ... In TSC2, all types of mutations have been reported; new mutations occur frequently. Few differences have yet been observed in ... Thus, mutations at the TSC1 and TSC2 loci result in a loss of control of cell growth and cell division, and therefore a ... TSC is caused by a mutation of either of two genes, TSC1 and TSC2, which code for the proteins hamartin and tuberin, ...
*  Alternating hemiplegia
Three patients showed heterozygous de-novo missense mutation. Six patients were found with de-novo missense mutation and one ... De novo mutation is a mutation that occurs in the germ cell of one parent. Neither parent has the mutation, but it is passed to ... The cause of alternating hemiplegia is the mutation of ATP1A3 gene. In a study of fifteen females and nine males' patient with ... September 2012). "De novo mutations in ATP1A3 cause alternating hemiplegia of childhood". Nature Genetics. 44 (9): 1030-1034. ...
*  FUT7
Bengtson P, Larson C, Lundblad A, Larson G, Påhlsson P (August 2001). "Identification of a missense mutation (G329A;Arg(110 ...
*  PAX6
1996). "PAX6 missense mutation in isolated foveal hypoplasia". Nat. Genet. 13 (2): 141-2. doi:10.1038/ng0696-141. PMID 8640214 ... Mutations of the Pax6 gene are known to cause various disorders of the eyes. Two common disorders associated with a mutation ... Nonsense mutations of Pax6 can lead to a condition called Aniridia which is associated with brain, olfactory, and pancreatic ... 1993). "PAX6 mutations in aniridia". Hum. Mol. Genet. 2 (7): 915-20. doi:10.1093/hmg/2.7.915. PMID 8364574. Azuma N, Nishina S ...
*  MYH2
2006). "Muscle cell and motor protein function in patients with a IIa myosin missense mutation (Glu-706 to Lys)". Neuromuscul. ... 2001). "Autosomal dominant myopathy: missense mutation (Glu-706 --> Lys) in the myosin heavy chain IIa gene". Proc. Natl. Acad ... 2005). "Mutations and sequence variation in the human myosin heavy chain IIa gene (MYH2)". Eur. J. Hum. Genet. 13 (5): 617-22. ... 2002). "Myosin heavy chain IIa gene mutation E706K is pathogenic and its expression increases with age". Neurology. 58 (5): 780 ...
*  Silent mutation
Codon degeneracy Neutral mutation Genealogical DNA test Missense mutation Nonsense mutation Point mutation Kimchi-Sarfaty, C.; ... Conversely, silent mutations are mutations in which the amino acid sequence is not altered. Silent mutations lead to a change ... The phrase silent mutation is often used interchangeably with the phrase synonymous mutation; however, synonymous mutations ... Zhang Z, Miteva MA, Wang L, Alexov E (2012). "Analyzing effects of naturally occurring missense mutations". Comput Math Methods ...
*  Pendrin
"Two frequent missense mutations in Pendred syndrome". Human Molecular Genetics. 7 (7): 1099-104. doi:10.1093/hmg/7.7.1099. PMID ... phenotypic variability in two families carrying the same PDS missense mutation". American Journal of Medical Genetics. 90 (1): ... novel OTOF and PDS mutations, low prevalence of GJB2 35delG mutation and indication for a new DFNB locus". European Journal of ... and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations". Human Mutation. 17 (5): ...
*  GJC2
2010). "GJC2 missense mutations cause human lymphedema". Am. J. Hum. Genet. 86 (6): 943-8. doi:10.1016/j.ajhg.2010.04.010. PMC ... Heterozygous missense mutations in this same gene cause pubertal onset hereditary lymphedema. GRCh38: Ensembl release 89: ... 2008). "GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease". Neurology. 70 (10): 748-54. doi:10.1212/01.wnl. ... 2004). "Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease". ...
*  Cytochrome P450 reductase
Five missense mutations (A287P, R457H, V492E, C569Y, and V608F) and a splicing mutation in the POR genes have been found in ... Another POR missense mutation Y181D has also been identified. Fifteen of nineteen patients having abnormal genitalia and ... The role of POR mutations beyond CAH are being investigated; and questions such as how POR mutations cause bony abnormalities ... Burkhard FZ, Parween S, Udhane SS, Flück CE, Pandey AV (April 2016). "P450 Oxidoreductase deficiency: Analysis of mutations and ...
*  MKRN3
de Vries L, Gat-Yablonski G, Dror N, Singer A, Phillip M (2014). "A novel MKRN3 missense mutation causing familial precocious ... Schreiner F, Gohlke B, Hamm M, Korsch E, Woelfle J (2014). "MKRN3 mutations in familial central precocious puberty". Horm Res ... "Central precocious puberty in a girl and early puberty in her brother caused by a novel mutation in the MKRN3 gene". J. Clin. ... "Central precocious puberty caused by mutations in the imprinted gene MKRN3". N. Engl. J. Med. 368 (26): 2467-75. doi:10.1056/ ...
*  CXorf66
No effects have been observed with this missense mutation. Based on STRING's predicted protein interaction, CXorf66 has medium ...
*  Sacsin
"Identification of a SACS gene missense mutation in ARSACS". Neurology. 62 (1): 107-9. doi:10.1212/01.wnl.0000099371.14478.73. ... Takado Y, Hara K, Shimohata T, Tokiguchi S, Onodera O, Nishizawa M (April 2007). "New mutation in the non-gigantic exon of SACS ... Mutations in this gene result in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), a neurodegenerative ... Mercier J, Prévost C, Engert JC, Bouchard JP, Mathieu J, Richter A (2001). "Rapid detection of the sacsin mutations causing ...
*  Nonsynonymous substitution
Missense mutations are nonsynonymous substitutions that arise from point mutations, mutations in a single nucleotide that ... and provides support for theories that include advantageous mutations. Missense mutation Nonsense mutation Ting Hu and Wolfgang ... Another type of mutation that deals with stop codons is known as a readthrough mutation, which occurs when a stop codon is ... Nonsense mutations are nonsynonymous substitutions that arise when a mutation in the DNA sequence causes a protein to terminate ...
*  ABCC9
"Dominant missense mutations in ABCC9 cause Cantú syndrome". Nature Genetics. 44: 793-796. doi:10.1038/ng.2324. PMID 22610116. " ... "ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating". Nat. Genet. 36 (4): 382-7. ...
*  Dysfibrinogenemia
Unless noted as a deletion (del), frame shift (fs), or homozygous mutation, all mutations are heterozygous, missense mutations ... a heterzyogus missense (c.1718G>T: Arg554Leu) mutation. Other missense mutations causing this disorder are unnamed; they ... it is caused by a homozygous or compound heterozygous missense mutation, a deletion, frameshift mutation, insert mutation, or ... Two particular missense mutations represent the majority (74% in one study of 101 individuals) of all mutations associated with ...
*  Coproporphyrinogen III oxidase
Daimon M, Gojyou E, Sugawara M, Yamatani K, Tominaga M, Sasaki H (February 1997). "A novel missense mutation in exon 4 of the ... Wiman A, Floderus Y, Harper P (2002). "Two novel mutations and coexistence of the 991C>T and the 1339C>T mutation on a single ... To date, over 50 CPOX mutations causing HCP have been described. Most of these mutations result in substitution of amino acid ... As only patients with mutation in this region (K404E) would develop harderoporphyria, this mutation led to diminishment of the ...
*  Serotonin transporter
"Serotonin transporter missense mutation associated with a complex neuropsychiatric phenotype". Molecular Psychiatry. 8 (11): ... Mutations associated with the gene may result in changes in serotonin transporter function, and experiments with mice have ... A second variant in the same gene of some patients with this mutation suggests a genetic "double hit", resulting in greater ... It has been examined in connection with obsessive compulsive disorder (OCD). I425V is a rare mutation on the ninth exon. ...
*  MSX1
Vastardis H, Karimbux N, Guthua SW, Seidman JG, Seidman CE (Aug 1996). "A human MSX1 homeodomain missense mutation causes ... Frameshift mutations, Ser202Stop mutation, resulting in a protein that lacks the C-terminal end of the homeodomain, impairs not ... Mutations in this gene, which was once known as homeobox 7, have also been associated with Witkop syndrome, Wolf-Hirschhorn ... MSX1 is one of the strongest candidate genes for specific forms of tooth agenesis, mutations in this gene was detected only in ...
*  Fainting goat
This missense mutation occurs in a sequence of seven amino acids that are included in a group of closely related channels ... In affected goats, the CLCN1 gene contains a missense mutation; the amino acid alanine is replaced with a proline residue. This ... The mutation in the goat gene that causes this muscle stiffness was discovered in 1996, several years after the equivalent gene ... Myotonia congenita is a mutation in the genes that effects the skeletal muscles which causes a short term spasm of the muscles ...
*  Adipose tissue
Mazen I, El-Gammal M, Abdel-Hamid M, Amr K (Aug 2009). "A novel homozygous missense mutation of the leptin gene (N103K) in an ... Strobel A, Issad T, Camoin L, Ozata M, Strosberg AD (Mar 1998). "A leptin missense mutation associated with hypogonadism and ... "A new missense mutation in the leptin gene causes mild obesity and hypogonadism without affecting T cell responsiveness". J ... Several mutations of genes involving the melanocortins (used in brain signaling associated with appetite) and their receptors ...
*  Bart-Pumphrey syndrome
... is caused by a novel missense mutation in GJB2". J. Invest. Dermatol. 123 (5): 856-63. doi:10.1111/j. ...