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. 2006 Jan;90(1):81–86. doi: 10.1136/bjo.2005.078048

Table 1 Secretion profile of mutant retinoschisin.

Mutations Base changes Amino acid changes Secretion Mutation affects conserved residue Discoidin domain
L12H* GGG‐GAG Leu‐His No
C59S* TGT‐AGT Cys‐Ser + No
G70S* TGT‐AGT Gly‐Ser + Yes
Y89C TAT‐TGT Tyr‐Cys Yes
W92C TGG‐TGC Trp‐Cys + Yes
W96R TGG‐CGG Trp‐Arg + Yes
R102W* CGG‐TGG Arg‐Trp + Yes
N104K AAC‐AAG Asn‐Lys + Yes
F108C TTT‐TGT Phe‐Cys + Yes
G109R* GGG‐CGG Gly‐Arg Yes
G109E GGG‐GAG Gly‐Glu Yes
C110Y TGT‐TAT Cys‐Tyr Yes
W112C TGG‐TGT Trp‐Cys + Yes
L113F CTC‐TTC Leu‐Phe Yes
R141H CGC‐CAC Arg‐His + Yes
R141G* CGC‐GGC Arg‐Gly + Yes
C142W* TGT‐TGG Cys‐Trp + Yes
D143V GAC‐GTC Asp‐Val Yes
R182C CGC‐TGC Arg‐Cys + Yes
H207Q CAC‐CAG His‐Gln + Yes
R209H CGC‐CAC Arg‐His + Yes
R213W CGG‐TGG Arg‐Trp + Yes
C219G TGC‐GGC Cys‐Gly + + Yes
C223R TGT‐CGT Cys‐Arg + No

*Published previously.15