Impairment of translation in neurons as a putative causative factor for autism

Biology Direct

Table 2 Features of the analyzed synonymous variations/mutations

	1. Rare variations from AutDB/AGRE (AVs)	2. Reconstructed mutations	3. Common SNPs	4. *De novo*mutations
C:G > T:A	64	44	34	66
C:G > A:T	7	6	8	6
C:G > G:C	4	3	6	6
T:A > C:G	10	20	9	16
T:A > G:C	1	3	3	3
T:A > A:T	1	3	1	2
P_MCχ2 = 0.390, P_ctcχ2 = 0.378, P_Zd = 0.464
Mutations in CpG’s (total #mutations)	42 (out of 87)	20 (out of 79)	24 (out of 61)	42 (out of 99)
P_Fisher for two columns (C’s)		C1 vs. C2	C1 vs. C3	C1 vs. C4
P_Fisher for two columns (C’s)		0.002	0.316	0.462

A Monte Carlo modification of the Pearson χ2 test (MCχ2) of spectra homogeneity, CTC χ2 and Zd measures were used for comparison of mutation frequencies as implemented in the COLLAPSE program [46]. Two-tailed Fisher exact test was used to compare frequencies of substitutions in CpG sites.

ISSN: 1745-6150