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Exact(5)

Among the latter, five mutations were single nucleotide substitutions, but three small in-frame indels affecting two mutational hot spots within the PH domain (p.Lys427_Asp430delinsAsn and p.Trp432_Glu433del) and the helical linker connecting the PH and REM domains (PH-REM linker) (p.Leu554_Met558delinsLys) were also identified.

By assuming that the vast majority of observed mutations were single nucleotide changes within a codon, each mutation was assigned to the NS (nonsynonymous) or S (synonymous) class of mutations, and the average z-score of each class was computed for every codon.

Two of the spd-2 mutations were single amino acid substitutions: spd-2 or293 spd-2 or293 a glycine atsposition 573 with a serine while spd-2(or493 ts) replachangesarglycineat position 573 with a hiserinee (Fig. 6B and Table 2).

Mutational step size followed a geometric distribution with p = 0.95, that is, 95% of mutations were single step.

It is important to note that human patients with missense PCP mutations were single heterozygotes, and it is generally assumed that heterozygosity for one or more additional deleterious interacting mutations must be present (Juriloff and Harris, 2012).

Similar(55)

However, these mutations were single-nucleotide polymorphisms.

All the observed mutations were single-base-pair substitutions.

Most (98.5%) mutations were single-nucleotide substitutions [ 3, 18, 28].

All mutations were single-nucleotide polymorphisms and had been reported previously.

As a result, most exome mutations were single-nucleotide substitutions with little base pair preference, guaranteeing the randomness of mutagenesis in this approach.

Since most ENU-induced mutations were single-nucleotide substitutions, we speculated that the mutation rate for each gene depended on its coding sequence (CDS) length.

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