Table 1. Validated somatic mutations from whole exome sequencing of 4 IDH-mutant LGGs.
Gene | Transcript Accession | Tumor | Amino Acid Change |
---|---|---|---|
IDH1 | NM_005896.2 | G4 | p.R132H |
G5 | p.R132G | ||
G18 | p.R132H | ||
G6 | p.R132H | ||
ATRX | NM_000489.3 | G5 | p.K1001fs |
G18 | p.R1426X | ||
G6 | p.L639fs | ||
TP53 | NM_000546.5 | G5 | p.R273C |
G6 | p.R273C | ||
MUC4 | NM_018406.6 | G5 | p.D1413N |
MYBBP1A | NM_001105538.1 | G4 | p.K277N |
OR2B6 | NM_012367.1 | G18 | p.M118V |
ABCC11 | NM_032583.3 | G18 | p.V668M |
GABRB3 | NM_000814.5 | G5 | p.P145L |
TNFRSF11B | NM_002546.3 | G18 | p.L331M |
CR1 | NM_000651.4 | G6 | p.V1927L |
KIAA1731 | NM_033395.1 | G5 | p.L272P |
HERC2 | NM_004667.5 | G5 | p.S2763C |
KIAA1211 | NM_020722.1 | G5 | p.A1105V |
EXT2 | NM_000401.3 | G5 | p.N131K |
SRA1 | NM_001035235.3 | G5 | p.V110delinsGL |