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 | - | Â |
TSC2 | G1425R | - | proband | - | - |
TSC2 | A1429S | inherited variant | - | - | reported (0.2324) |
TSC2 | G1439D | - | - | ASD variant | reported (0.4412) |
TSC2 | S1448R | - | proband | - | - |