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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