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Table 3 Details of rare missense variants identified in TSC genes in ASD cases and parents

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

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
f TSC1 - 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 -
  1. ap1: proband; fa: father; mo: mother.
  2. bcoordinates based on genome build hg19.
  3. camino acid position based on Swiss-Prot accession # Q92574.2 and P49815.2 for TSC1 and TSC2, respectively.
  4. dtuberous sclerosis database: Leiden Open Variation Database.
  5. eNHLBI exome variant server, Seattle, WA, USA. Values in parentheses denote minor allele frequency in percent.
  6. fidentified by next-generation sequencing but not tested by Sanger sequencing because it was previously reported.