Disease-causing missense (and other in-frame) mutations can exert their deleterious effects at the cellular level through multiple mechanisms.
The deleterious effects of missense mutations are commonly attributed to their impact on primary amino acid sequence and protein structure.
Exonic splicing enhancers
Some missense mutations are deleterious because they disturb cis-acting splicing elements-so-called "exonic splicing enhancers" (ESEs).
Gain-of-glycosylation mutations
A pathogenic (...)
Home > Keywords > Molecular > Molecular lesions
Molecular lesions
Articles
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missense mutations
14 October 2003 -
DNA double-strand breaks
19 November 2003Double strand breaks, DNA double strand breaks
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ubiquitin-positive deposits
29 November 2004Types
intra-cellular deposits ubiquitin-containing cellular inclusions
extra-cellular deposits
Pathology
ubiquitin-positive deposits found in patients with Alzheimer disease (AD).
See also
ubiquitin-proteasome complex -
DNA single-strand breaks
7 March 2006DNA single strand damage, DNA single strand breaks, SSBs
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gain-of-glycosylation mutations
17 July 2007Disease-causing missense (and other in-frame) mutations can exert their deleterious effects at the cellular level through multiple mechanisms.
A pathogenic mechanism involves the addition of a novel N-linked glycan. Up to 1.4% of known disease-causing missense mutations are predicted to give rise to gains-of-glycosylation.
For some of these mutations, the novel glycans have been shown to be both necessary and sufficient to account for the deleterious impact of the mutation.
The chemical (...) -
epimutations
2 October 2003epigenetic silencing, (epi)mutations
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gene mutation
29 September 2003DNA mutations
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somatic mutations
3 December 2003Pathology
somatic mutations in tumors
somatic mutations in diseases neurofibromatosis 1 neurofibromatosis 2 incontinentia pigmenti paroxysmal nocturnal hemoglobinuria fibrous dysplasia (activating somatic mutations of the Gs alpha gene) (#8541861#) Proteus syndrome Klippel-Trenaunay syndrome Maffuci syndrome
News
DNA Double Take. http://www.nytimes.com/2013/09/17/science/dna-double-take.html?_r=0
See also
somatic mutation detection
References
Dalgliesh GL, Futreal PA. The (...) -
protein lesions
6 March 2004