Table 2.

Mutation analysis in patients with juvenile and adult cystinosisa

PatientMutation 1Mutation 2
PositionNucleotide ChangebAmino Acid ChangeTransport ActivitycPositionNucleotide ChangebAmino Acid ChangeTransport Activityc
1aExon 1057-kb deletion0Exon 5537–557 del21bpITILELP67–73del19 ± 6.1
2aExon 10c.1178A>Gp.K280R−0.7 ± 0.9NFNFNF
2bExon 10c.1178A>Gp.K280R−0.7 ± 0.9NFNFNF
3aNFNFNFNFNFNF
4aExon 6c.668G>Tp.G110Vd120.0 ± 27.0Exon 6c.668G>Tp.G110Vd120 ± 27
5aNFNFNFNFNFNF
6aExon 7c.755C>Tp.S139F−2.9 ± 1.0Exon 9985–986insAp.T216fsX227ND
7aExon 1057-kb deletion0Exon 9c.938C>Tp.P200L15.0 ± 4.5
7bExon 1057-kb deletion0Exon 9c.938C>Tp.P200L15.0 ± 4.5
8aExon 7c.755C>Tp.S139F−2.9 ± 1.0Exon 7c.755C>Tp.S139F−2.9 ± 1.0
8bExon 7c.755C>Tp.S139F−2.9 ± 1.0Exon 7c.755C>Tp.S139F−2.9 ± 1.0
9aExon 1057-kb deletion0Exon 12c.1340C>Ap.T334NND
9bExon 1057-kb deletion0Exon 12c.1340C>Ap.T334NND
9cExon 1057-kb deletion0Exon 12c.1340C>Ap.T334NND
  • a Mutations in patients 4a and 7a were described by Kalatzis et al. (21) and in patient 6a by Attard et al. (case P41) (12). ND, not determined; NF, not found.

  • b The first nucleotide of the cDNA sequence is considered as +1; the ATG start codon is situated at +340. The nucleotide changes indicated here are those proposed in the original publications, although they do not follow the recommendations that the A of the ATG start codon should be considered as +1.

  • c Effect on transport activity (expressed as a percentage of wt cystinosin activity ± SEM) reported by Kalatzis et al. (21).

  • d The G110V missense mutation in this patient does not affect cystine transport (21); it is the splicing defect that generates the associated phenotype (15).