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Otherwise, RBP4-MspI does not seem to be the causative mutation associated with an increase in litter size.
The regions detected by QTL mapping generally contain a large number of polymorphisms that could be the causative mutation.
For example, a large insertion affecting the expression of BMP12 has been shown to be the causative mutation associated with the naked neck trait (Mou et al. 2011).
This may suggest that the T allele, which adds an extra cysteine to the protein, imparts a partial loss of biological function and hence could be the causative mutation.
For example a synonymous variant (a class enriched for some traits) that is associated with a trait is unlikely to be the causative mutation but is more likely to be in high linkage disequilibrium with a nearby causative mutation.
In the case of the fus mutant, exactly one mutation was found that satisfied these conditions, and this turned out to be the causative mutation (Table 3; see section Analysis of the causative mutation in mutant fus).
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The two TEs in the maize haplotypes appeared to be the only polymorphisms that could potentially be the causative mutations for the maize tb1 allele.
Moreover, both Hep and Lim3 show nonconservative amino acid differences between strain H5 and W11 that could be the causative mutations of the observed lifespan differences.
Non-synonymous SNPs are of particular interest because they are more likely to alter the structure and biological function of a protein, and therefore could be the causative mutations underlying important phenotypes.
p.373Y>C is known to cause thanatophoric dysplasia (13), giving high confidence that this is the causative mutation in F23.
Regardless of this structural difference, we cannot confirm that this digenism is the causative mutation.
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