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Table 2 Details of rare variants identified in MYCBP2 in ASD cases and parents

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

SSC Proband/ Parent IDa Variant type Coordinateb Amino acid positionc Inheritance Functional prediction by polyphen-2 Exome variant serverd
Inherited coding sequence variants
11664.p1 missense 77764453 K1325R paternal damaging -
11441.p1 missense 77755922 I1581V maternal benign -
11002.p1 missense 77714277 D2437N maternal damaging -
11000.p1 missense 77672744 N2811D maternal benign reported
Non-transmitted coding sequence variants
11664.fa missense 77835444 V534I - benign reported
11587.fa missense 77835416 K543R - benign reported
11573.mo missense 77765917 V1285I - benign reported
11149.fa missense 77745761 F1849C - benign -
11765.mo missense 77700625 P2533L - benign -
11775.mo missense 77672767 R2803H - benign reported
Intronic variants (potential splicing defects)
11242.p1 c.1625-19T>C 77838156 - paternal - -
11417.p1 c.3982+31C>G 77779577 - maternal - -
11291.p1 c.6727-16T>C 77738691 - maternal - -
  1. ap1: proband; fa: father, mo: mother.
  2. bcoordinates based on genome build hg19.
  3. camino acid position based on Swiss-Prot accession # O75592.3.
  4. dNHLBI exome variant server, Seattle, WA, USA.