Table 1 Some deleterious and probably deleterious missense (MM), deletion (DEL), stop-gain (SG), and insertion (INS) mutations in the CTNS gene
From: Cystinosis and two rare mutations in CTNS gene: two case reports
Mutation | Amino acid | Mutation | Amino acid | Mutation | Amino acid | Mutation | Amino acid |
|---|---|---|---|---|---|---|---|
Type | Change | Type | Change | Type | Change | Type | Change |
MM | 5R>W | DEL | 66NITILELP>N | MM | 169G>D | MM | 261T>K |
MM | 11L>P | MM | 95Q>R | MM | 172A>S | MM | 265F>S |
MM | 14D>N | SG | 95G>X | MM | 178I>M | MM | 267F>L |
MM | 16L>P | MM | 99V>G | MM | 197G>R | MM | 287M>V |
MM | 21T>M | MM | 101L>I | MM | 201V>M | MM | 292K>R |
MM | 25A>S | MM | 111P>L | MM | 205D>N | MM | 309G>V |
MM | 27T>N | MM | 114R>C | MM | 206V>F | MM | 310S>R |
MM | 32V>I | MM | 123I>S | MM | 212A>V | MM | 313L>H |
MM | 37G>S | SG | 138W>R | MM | 216T>M | MM | 314L>M |
MM | 39S>L | MM | 139S>F | MM | 226Y>N | MM | 323N>K |
MM | 41N>T | MM | 152R>W | MM | 229G>A | MM | 326W>R |
MM | 42V>I | MM | 158L>P | MM | 231Q>L | MM | 331G>R |
MM | 47R>W | MM | 161D>N | MM | 232R>C | MM | 336F>Y |
MM | 55V>M | MM | 163V>M | MM | 233V>M | MM | 339G>R |
MM | 63R>C | MM | 168T>M | INS | 233->X | MM | 669G>S |