• 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
  • Thumbnail for Point mutation
    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
  • Thumbnail for Japanese Bobtail
    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...
    18 KB (2,277 words) - 13:23, 4 August 2024
  • Thumbnail for Variants of SARS-CoV-2
    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 (21,444 words) - 01:26, 8 August 2024
  • Thumbnail for Stop codon
    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
  • Thumbnail for Mutation
    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) - 09:15, 8 August 2024
  • Thumbnail for Adolescent idiopathic scoliosis
    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
  • Thumbnail for Fainting goat
    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 (2,576 words) - 20:50, 1 August 2024
  • Thumbnail for Retinal degeneration (rhodopsin mutation)
    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
  • Thumbnail for Dominant white
    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
  • Thumbnail for Smith–Lemli–Opitz syndrome
    enzyme at all. Thus, missense mutations may be more common overall because they are less lethal than nonsense mutations; nonsense mutations may simply result...
    56 KB (6,560 words) - 23:49, 7 July 2024
  • Thumbnail for Neurofibromatosis type II
    alterations (frameshift deletions/insertions and nonsense mutations), splice-site mutations, missense mutations and others. Deletions, too, in the NH2-terminal...
    28 KB (3,350 words) - 07:27, 31 July 2024
  • Thumbnail for BRCA1
    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 (13,581 words) - 14:59, 8 August 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
  • Thumbnail for Fumarylacetoacetate hydrolase
    for codon 234 exhibit this mutation which changes a tryptophan to a glycine. This possibly suggests HT1 missense mutations also inhibiting enzymatic activity...
    21 KB (2,536 words) - 15:28, 8 July 2024
  • Thumbnail for Silent mutation
    phenotype. Codon degeneracy Neutral mutation Genealogical DNA test Missense mutation Nonsense mutation Point mutation Synonymous substitution Kimchi-Sarfaty...
    27 KB (3,320 words) - 14:25, 5 August 2024
  • Thumbnail for Hereditary angioedema
    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 (4,424 words) - 10:55, 6 August 2024
  • Thumbnail for Norepinephrine transporter
    proteins with an altered amino acid sequence (more specifically, a missense mutation) could potentially be associated with various diseases that involve...
    31 KB (3,397 words) - 02:14, 21 December 2023
  • Thumbnail for Osteogenesis imperfecta
    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) - 14:58, 14 July 2024
  • 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...
    33 KB (4,117 words) - 05:05, 25 June 2024
  • Thumbnail for Orpington chicken
    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...
    9 KB (771 words) - 04:08, 6 May 2024
  • recombination. point mutations that lead to non-functional (inactivated) opsins: C203R: a missense mutation. P307L R247X: a nonsense mutation. intragenic deletion...
    19 KB (2,129 words) - 04:23, 20 June 2024
  • Thumbnail for Lujan–Fryns syndrome
    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
  • Luo, Shu-Jin (2016-08-25). "Whole Genome Sequencing Identifies a Missense Mutation in HES7 Associated with Short Tails in Asian Domestic Cats". Scientific...
    22 KB (2,675 words) - 03:18, 30 May 2024
  • Thumbnail for Laminopathy
    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
  • Thumbnail for Lissencephaly
    Hu ZW, Xu YM (August 2018). "Identification of a novel PAFAH1B1 missense mutation as a cause of mild lissencephaly with basal ganglia calcification"...
    24 KB (2,536 words) - 12:56, 25 July 2024
  • Thumbnail for Protein biosynthesis
    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
  • Thumbnail for Alagille syndrome
    the primary type of ALGS-causing mutation in NOTCH2 is a missense mutation. A missense mutation is a point mutation that changes one nucleotide, which...
    20 KB (2,099 words) - 23:26, 21 July 2024
  • Thumbnail for Champagne gene
    (SNP) exchanges a C for a G at base 76 (c.188C>G) resulting in a missense mutation. On a protein level, this SNP is predicted to result in the replacement...
    40 KB (5,190 words) - 19:14, 7 June 2024