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