In genetics, a missense mutation is a point mutation in which a single nucleotide change results in a codon that codes for a different amino acid. It...
7 KB (804 words) - 04:06, 1 April 2024
or elimination of protein production. Missense mutations code for a different amino acid. A missense mutation changes a codon so that a different protein...
35 KB (4,359 words) - 07:19, 9 April 2024
nonsense mutations leads to premature termination of polypeptide chains; they are also called chain termination mutations. Missense mutations differ from...
25 KB (2,870 words) - 22:43, 9 March 2024
Variants of SARS-CoV-2 (redirect from D614G mutation)
unique mutations, with 37 affecting the spike protein. There have been a number of missense mutations observed of SARS-CoV-2. The name of the mutation, del...
230 KB (21,438 words) - 19:08, 10 July 2024
Nonsynonymous substitutions can be classified as nonsense or missense mutations: A missense mutation changes a nucleotide to cause substitution of a different...
117 KB (13,924 words) - 12:53, 11 July 2024
Stop codon (redirect from Amber mutation)
codon but, instead, delete one. Nonstop mutations also differ from missense mutations, which are point mutations where a single nucleotide is changed to...
30 KB (2,789 words) - 10:55, 5 June 2024
Japanese Bobtail (section Mutation)
tails in these cats are the result of a missense mutation of the HES7 gene. It is the same cause of the mutation in Japanese Bobtails, making it likely...
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826 300 T>C missense mutation (p.Gln697Arg) at chr15:48 796 007 T>G missense mutation (p.Asn703His) at chr15:48 795 990 C>T missense mutation (p. Val916Met)...
43 KB (4,842 words) - 16:26, 27 May 2024
found in a family of Berber horses. It is a missense mutation identical to the second missense mutation in W17. The horses with W30 are white or almost...
92 KB (10,969 words) - 00:20, 14 April 2024
alterations (frameshift deletions/insertions and nonsense mutations), splice-site mutations, missense mutations and others. Deletions, too, in the NH2-terminal...
28 KB (3,346 words) - 16:05, 19 February 2024
100 distinct mutations in the light-sensing molecule rhodopsin are known to cause (adRP). Most of these mutations are missense mutations affecting single...
38 KB (4,009 words) - 11:01, 3 December 2023
the largest number of DS-related mutations characterized thus far occur in this gene. Typically, a missense mutation in either the S5 or S6 segment of...
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enzyme at all. Thus, missense mutations may be more common overall because they are less lethal than nonsense mutations; nonsense mutations may simply result...
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BRCA1 (redirect from BRCA1 mutation)
homologous domains interact to control cellular responses to DNA damage. A missense mutation at the interface of these two proteins can perturb the cell cycle...
121 KB (13,635 words) - 05:09, 13 July 2024
Al Balwi M, Alrasheed S, et al. (March 2010). "Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results...
150 KB (15,363 words) - 17:45, 18 June 2024
Fumarylacetoacetate hydrolase (section Mutations)
for codon 234 exhibit this mutation which changes a tryptophan to a glycine. This possibly suggests HT1 missense mutations also inhibiting enzymatic activity...
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severity of the condition. In affected goats, the CLCN1 gene contains a missense mutation; the amino acid alanine is replaced with a proline residue. This small...
20 KB (2,568 words) - 11:45, 25 April 2024
Martin; Owen, Mike; Hardy, John (February 1991). "Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease"...
32 KB (3,621 words) - 17:25, 4 May 2024
Laminopathy (section Nonsense and missense mutations)
Most lamin B mutations appear to be lethal with mutations in lamin B1 causing death at birth in mice. In 2006, lamin B2 missense mutations were identified...
32 KB (3,382 words) - 06:42, 20 May 2024
missense or substitution mutation in the gene encoding the hemoglobin B subunit polypeptide chain. A missense mutation means the nucleotide mutation alters...
40 KB (4,342 words) - 18:58, 2 April 2024
occurring polypeptide. Missense mRNA molecules are created when template DNA strands or the mRNA strands themselves undergo a missense mutation in which a protein...
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phenotype. Codon degeneracy Neutral mutation Genealogical DNA test Missense mutation Nonsense mutation Point mutation Synonymous substitution Kimchi-Sarfaty...
26 KB (3,318 words) - 15:12, 8 November 2023
At least one other missense mutation outside of the S1 region, T224R, also leads to loss of function. While very few mutations in CNGB3 have been characterized...
26 KB (2,928 words) - 23:30, 30 May 2024
Apolipoprotein B deficiency (redirect from Hypercholesterolemia due to arg3500 mutation of Apo B-100)
Apolipoprotein B deficiency is an autosomal dominant disorder resulting from a missense mutation which reduces the affinity of apoB-100 for the low-density lipoprotein...
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Sutherland G, Richards R (1999). "Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and FHM"...
31 KB (3,128 words) - 15:49, 26 April 2024
allele is a transition point mutation from guanine to adenine at nucleotide 845 in HFE, resulting in a missense mutation that replaces the cysteine residue...
69 KB (7,318 words) - 22:37, 9 July 2024
these are nonsense mutations causing the protein to be abnormally short, and two are deletion mutations, while ten are missense mutations that substitute...
42 KB (4,764 words) - 15:55, 4 January 2024
16 June 2013. Li; Bed'hom; Marthay; et al. (20 November 2018). "A missense mutation in TYRP1 causes the chocolate plumage color in chicken and alters...
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HAE with normal C1-inhibitor is caused by a mutation of the plasminogen gene, namely a rare missense mutation within the kringle 3 domain of plasminogen...
41 KB (4,418 words) - 04:41, 8 July 2024
inherited in an X-linked dominant manner, and is attributed to a missense mutation in the MED12 gene. There is currently no treatment or therapy for...
40 KB (4,178 words) - 08:12, 27 December 2023