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There are other significant biological challenges as well as it has been shown that an identical mutation can result in different phenotypes [36].
Furthermore, we show that an acceptor-splice site mutation can result in different mutant transcripts, including a two-exon-skip involving an upstream exon.
A Gly717Arg mutation can result from a single bp change of G to A at the first base of codon717 in the eEF-2 gene.
Interestingly, the degradation of apoptotic cells utilizes many genes that also function in receptor-mediated endocytosis, and their mutation can result in various human diseases (e.g., mammalian orthologues of RAB-5 in tuberous sclerosis, Dynamin-2 and Rab7 in Charcot-Marie-Tooth disease [35] [37]).
The mitochondrial DNA A3243G point mutation can result in disease with a variable presentation.
This mutation can result in a continuous stimulation of cell growth and, consequently, in cancer.
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In actively dividing cells, these mutations can result in cancer.
Alternatively, mutations can result in the carcinogenic transformation of cells and the formation of a tumour.
Interestingly, this category is a precursor to the other categories, as loss-of-function mutations can result in either mutualism or exploitation scenarios23.
This study provided the first evidence that gene mutations can result in a defective spindle checkpoint in humans and thus might be responsible for aneuploidy in human cancers.
Changes to translational efficiencies caused by the synonymous mutations can result in altered protein folding6 and could conceivably lead to increased fitness.
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