| Gene Name |
Gene alias |
UniProt |
Protein Name |
Protein alias |
Mutation type and UTR/Intron change |
Amino Acid Change |
Ref. |
| PTEN |
MMAC1, TEP1 |
P60484 |
PTEN |
MMAC1 |
Missense |
p.A121E |
[23] |
| |
|
|
|
|
Missense |
p.D252Y |
[2,5] |
| |
|
|
|
|
Missense |
p.D331G |
[23] |
| |
|
|
|
|
Missense |
p.D92E |
[2,5] |
| |
|
|
|
|
Missense |
p.D92G |
[23] |
| |
|
|
|
|
Missense |
p.F90L |
[23] |
| |
|
|
|
|
Missense |
p.M205I |
[23] |
| |
|
|
|
|
Missense |
p.P246L |
[2,5] |
| |
|
|
|
|
Nonsense |
p.R335* |
[2,5] |
| |
|
|
|
|
Missense |
p.Y225C |
[23] |
| |
|
|
|
|
Missense |
p.Y88C |
[23] |
| |
|
|
|
|
Nonsense |
p.Q245* |
[22] |
| |
|
|
|
|
Missense |
p.R14S |
[5] |
| |
|
|
|
|
intron7(del. TT) |
|
[24] |
| |
|
|
|
|
c.e7_splice_site |
|
[2,5] |
| |
|
|
|
|
intron 1 |
|
[23] |
| |
|
|
|
|
intron 2 |
|
[23] |
| |
|
|
|
|
intron 2 |
|
[23] |
| |
|
|
|
|
intron 4 |
|
[22] |
| |
|
|
|
|
intron 6 |
|
[23] |
| |
|
|
|
|
intron 7 |
|
[23] |
| |
|
|
|
|
intron 7 (39 base insertion) |
|
[22] |
| |
|
|
|
|
intron 7 (germiline) |
|
[24] |
| |
|
|
|
|
UTR |
|
[23] |
| |
|
|
|
|
UTR |
|
[23] |
| |
|
|
|
|
|
|
|
| TSC1 |
TSC, KIAA0243 |
Q92574 |
Hamartin |
TSC1 |
Synonymous |
p.P506P |
[2] |
| |
|
|
|
|
Nonsense |
p.R245* |
[2,5] |
| |
|
|
|
|
|
|
|
| TSC2 |
TSC4 |
P49815 |
Tuberin |
TSC2 |
Nonsense |
p.1415* |
[5] |
| |
|
|
|
|
|
|
|
| AKT2 |
|
P31751 |
AKT2 |
PKB-β,PKA-2,RAC-PK-β |
Missense |
p.Y351C |
[5] |
| |
|
|
|
|
|
|
|
| mTOR |
FRAP, FRAP1, FRAP2, RAFT1, RAPT1 |
P42345 |
mTOR |
|
Missense Missense |
p.L2260H p.R1161Q |
[2,5] [2,5] |
| |
|
|
|
|
|
|
|
| RICTOR |
KIAA1999 |
Q6R327 |
RICTOR |
hAVO3 |
Nonsense Missense |
p.E1633* p.D175H |
[5] [5] |
| |
|
|
|
|
|
|
|
| RPTOR |
KIAA1303, RAPTOR |
Q8N122 |
RAPTOR |
|
Missense |
p.P407L |
[5] |
|
