ProSAP1A/SHANK2 variations identified in 851 patients with ASD and 1,090 controls.

aNucleotide positions are according to NM 012309.3 from NCBI36/hg18 on the positive DNA strand; The patients with ASD and the controls used for this analysis came from this study (455 ASD & 431 controls) and from the study of Berkel et al. 2010 (396 ASD & 659 controls);bA screening of V717F, A729T, R818H, G1170R, D1535N and L1722P was performed in 948 subjects from the Human Genome Diversity Panel (V717F = 0/948; A729T = 0/948; R818H = 5/948; G1170R = 0/948; D1535N = 0/948; L1722P = 0/948);cA screen of R818H was performed in additional patients and controls (ASD 32/3250 (1.0%); controls 27/2030 (1.33%); Fisher's exact test 2-sided, P = 0.28). Fisher's exact test was used for statistical analysis;d“Yes” indicates if amino acid is conserved in SHANK1 (S1), SHANK3 (S3) or both (S1 & S3); MAF, Minor Allele Frequency.