Skip to main content

Table 4 Inter-study comparison of TSC variants identified in ASD samples

From: Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder

Gene Amino acid positiona Current study Schaaf et al.[13] Kelleher et al.[12] Exome variant serverb
TSC1 P231L - - ASD variant -
TSC1 Q527R - - ASD variant -
TSC1 L116V parental variant control ASD variant reported (0.0154)
TSC1 M322T - - - reported (16.5462)
TSC1 S334L - control - reported (0.0308)
TSC1 R336W - control ASD variant reported (0.0231)
TSC1 T360N inherited variant proband/control - reported (0.0461)
TSC1 T393I - - ASD variant reported (0.0077)
TSC1 S403L - control - reported (0.0615)
TSC1 P448S inherited variant proband ASD variant reported (0.3844)
TSC1 G560S - control - -
TSC1 K587R - proband/control - reported (0.0923)
TSC1 Q654E - - ASD variant -
TSC1 H732Y - proband/control - reported (0.2691)
TSC1 N762S - proband - reported (0.0384)
TSC1 Q906H - - ASD variant -
TSC1 G1035S - proband/control - reported (0.1232)
TSC1 M1067L - proband - -
TSC2 S6N - control - -
TSC2 M50V - proband/control - reported (0.0231)
TSC2 I64V inherited variant yes - -
TSC2 E92V - control - reported (0.1466)
TSC2 A97T - control - -
TSC2 A145T - - ASD variant -
TSC2 H152D inherited variant - - -
TSC2 A431V - - ASD variant -
TSC2 A460T - proband/control - reported (0.0799)
TSC2 S487C - - ASD variant -
TSC2 K533Q inherited variant proband - -
TSC2 R537C - proband - reported (0.0462)
TSC2 I606V - proband - reported (0.0154)
TSC2 D635E - control - -
TSC2 V638M - - ASD variant -
TSC2 A678T - proband - reported (0.0162)
TSC2 Y719H - - ASD variant -
TSC2 C728F parental variant - - -
TSC2 P874L - - ASD variant reported (0.0077)
TSC2 P878S parental variant - - -
TSC2 F904A - proband/control - reported (0.0077)
TSC2 K954R inherited variant - - -
TSC2 S960F parental variant - - -
TSC2 E984Q inherited variant proband/control - -
TSC2 D1084E - - ASD variant -
TSC2 P1097L - proband - -
TSC2 A1141V - proband - reported (0.6389)
TSC2 S1276F - - ASD variant -
TSC2 P1305L - - ASD variant reported (0.7186)
TSC2 G1325D - - ASD variant -
TSC2 T1330M parental variant - - -
TSC2 E1351K - - ASD variant -
TSC2 S1365L - control - reported (0.0077)
TSC2 R1369Q - proband -  
TSC2 G1425R - proband - -
TSC2 A1429S inherited variant - - reported (0.2324)
TSC2 G1439D - - ASD variant reported (0.4412)
TSC2 S1448R - proband - -
  1. aamino acid position based on Swiss-Prot accession # Q92574.2 and P49815.2 for TSC1 and TSC2, respectively.
  2. bNHLBI exome variant server, Seattle, WA, USA. Values in parentheses denote minor allele frequency in percent.