Gene | Chr | Mutation | Gene function | Genotype | SIFT score |
---|---|---|---|---|---|
NRG1 | IV | 137C > A (P46Q) | Transcriptional repressor, stress tolerance | Homo | 0 |
UBP7 a | IX | 2466 T > A (N822K) | Ubiquitin-specific protease | Homo | 0.33 |
ART5 a | VII | 454C > A (L152I) | Regulates endocytosis and turnover of cell-surface proteins by targeted ubiquitination | Hetero | 0.17 |
SSA1 a | I | 91C > A (Q31K) | ATP-ase, protein folding, heat shock, HSP70 | Hetero | 0 |
GDH1 b | XV | 47C > T (S16F) | Glutamate synthesis from ammonia | Hetero | 0 |
GDH1 b | 68 T > G (F23C) | Hetero | 0 | ||
ARO1 b | IV | 1283C > T (S428F) | Catalyzes biosynthesis of chorismate leading to aromatic amino acids | Hetero | 0 |
ARO1 b | 1284C > T (Silent) | Hetero | - | ||
STE5 b | IV | 512C > T (S171F) | Pheromone-response scaffold protein, forms MAPK cascade complex | Hetero | 0 |
STE5 b | 2649 T > C (Silent) | Hetero | - | ||
MAL11 b | VII | 310C > T (P104S) | Alpha-glucoside symporter, with high affinity for trehalose | Hetero | 0 |
MAL11 b | 482 T > A (M161K) | Hetero | 0.02 | ||
GSH1 c | X | T > A (73 bp 5′ UTR) | Glutamylcysteine synthetase, glutathione biosynthesis | Hetero | - |
PBP1 c | VII | T > C (191 bp 5′ UTR) | Controls mRNA poly(A), stress granule formation and translation control | Hetero | - |
FIT3 c | XV | C > T (42 bp 3′ UTR) | Iron transport | Hetero | - |
NOP58 c | XV | A > T (25 bp 3′ UTR) | Pre-rRNA processing and rRNA synthesis | Hetero | - |
YNL058Cd | XIV | 7A > G (K3E) | Unknown function | Hetero | 0.42 |
DOP1 d | IV | 40A > T (N14Y) | Endosome to Golgi transport, ER organization, cell polarity and morphogenesis | Hetero | 0.05 |
TOF2 d | XI | 2141 C > T (S714L) | rDNA silencing, stimulates Cdc14p for mitotic rDNA separation | Hetero | 0.27 |
SGO1 d | XV | 575C > A (S192Y) | Chromosomal segregation and stability | Hetero | 0.03 |