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Table 2 Notable candidate genes/alterations

From: Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities

Gene

RefSeq Isoform

Variant/Coordinatesa

SIFT Score (Prediction)

Polyphen2_HDIV Score (Prediction)

Polyphen2_HVAR Score (Prediction)

Mammalian Target of Rapamycin (MTOR)

NM_004958

Chr1:11190804C>T c.5395G>A p.E1799K

0.133 (Tolerated)

0.878 (Possibly Damaging)

0.463 (Possibly Damaging)

Oligophrenin-1 (OPHN1)

NM_002547

ChrX:67272394C>T c.2363G>A p.R788Q

0.130 (Tolerated)

0.995 (Probably Damaging)

0.457 (Possibly Damaging)

  1. aGenomic coordinates correspond to GRCh37/hg19. Note that at the genomic level, both the MTOR and the OLPHN1 variants are notated by their complementary bases. This is due to the fact that each gene is encoded by the minus strand of its respective chromosome