Table 3.
Details of rare missense variants identified in TSC genes in ASD cases and parents
| TSC gene | SSC Proband/ Parent IDa | Coordinateb | Amino acid positionc | Inheritance | Functional prediction by polyphen-2 | LOVD TSC databased | Exome variant servere |
|---|---|---|---|---|---|---|---|
|
Inherited coding sequence variants | |||||||
|
TSC1 |
11208.p1 |
135786451 |
T360N |
both |
damaging |
probably not pathogenic |
reported (0.0461) |
|
TSC1 |
11409.p1 |
135782214 |
P448S |
paternal |
benign |
probably not pathogenic |
reported (0.3844) |
|
TSC2 |
11232.p1 |
2100452 |
I64V |
paternal |
damaging |
- |
- |
|
TSC2 |
11443.p1 |
2104414 |
H152D |
maternal |
benign |
- |
- |
|
TSC2 |
11543.p1 |
2114426 |
K533Q |
maternal |
damaging |
- |
- |
|
TSC2 |
11619.p1 |
2127622 |
K954R |
paternal |
benign |
- |
- |
|
TSC2 |
11590.p1 |
2127711 |
E984Q |
paternal |
damaging |
- |
- |
|
TSC2 |
11196.p1 |
2134508 |
A1429S |
both |
benign |
no known pathogenicity |
reported (0.2324) |
|
Non-transmitted coding sequence variants | |||||||
|
fTSC1 |
- |
135800991 |
L116V |
- |
damaging |
pathogenicity unknown |
reported (0.0154) |
|
TSC2 |
11780.fa |
2122327 |
C728F |
- |
damaging |
- |
- |
|
TSC2 |
11458.mo |
2125886 |
P878S |
- |
damaging |
- |
- |
|
TSC2 |
11303.mo |
2127640 |
S960F |
- |
damaging |
- |
- |
| TSC2 | 11195.mo | 2133801 | T1330M | - | benign | pathogenicity unknown | - |
ap1: proband; fa: father; mo: mother.
bcoordinates based on genome build hg19.
camino acid position based on Swiss-Prot accession # Q92574.2 and P49815.2 for TSC1 and TSC2, respectively.
dtuberous sclerosis database: Leiden Open Variation Database.
eNHLBI exome variant server, Seattle, WA, USA. Values in parentheses denote minor allele frequency in percent.
fidentified by next-generation sequencing but not tested by Sanger sequencing because it was previously reported.