Table 2. Somatic mutations of ATAD5 were identified in primary human endometrial tumors.
Case no.† | Tumor subtype | Nucleotide change | Amino acid change | Mutation type | Predicted effect of missense mutations on protein function | |
By SIFT | By PolyPhen | |||||
T3 | NEEC | c.G905T | S302I | Missense | Tolerated | Probably damaging |
T3 | NEEC | c.C1169A | A390D | Missense | Tolerated | Probably damaging |
T3 | NEEC | c.G2167T | E723X | Nonsense | - | - |
T3 | NEEC | c.G4380A | E1460E | Synonymous | - | - |
T113 | NEEC | c.G892A | E298K | Missense | Tolerated | Benign |
T113 | NEEC | c.G1913T | S638I | Missense | Tolerated | Possibly damaging |
T113 | NEEC | c.C4546A | P1516T | Missense | Tolerated | Probably damaging |
T113 | NEEC | c.C4143A | D1381E | Missense | Tolerated | Probably damaging |
T51 | NEEC | c.C4240T | R1414X | Nonsense | - | - |
T62 | NEEC | c.C4766G | S1589C | Missense | Tolerated | Probably damaging |
T88 | EEC | c.C272A | P91H | Missense | Tolerated | Benign |
†Case no T3 is also known as OM-1323.