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 | - | - |