TABLE 2

Mutations in the amon gene

MutantMutationcDNA bpPredicted effect
Q178stCAG → TAG968Gln 178 → Stop
Q507saag → aa (intron)NAIncorrect splicing
E601saag → aa (intron)NAIncorrect splicing
C241YTGT → TAT1158Cys 241 → Tyr
C245YTGC → TAC1197Cys 254 → Tyr
G367VGGC → GTC1536Gly 367 → Val
G473RGGG → AGG1853Gly 473 → Arg
S557L1TCG → TTG2106Ser 557 → Leu
S557L2TCG → TTG2106Ser 557 → Leu
  • NA, not applicable.