From: Phenotype prediction for mucopolysaccharidosis type I by in silico analysis
Mutation | Phenotype prediction | Mutation | Phenotype prediction | Mutation | Phenotype prediction |
---|---|---|---|---|---|
Y76C | mild | M504T | intermediate | V620F | severe |
R89W | mild | L535F | intermediate | R628P | severe |
R89Q | mild, intermediate | R619G | intermediate | X654C | severe |
A160D | mild, intermediate | W626R | intermediate | L421P | unknown |
C205Y | mild | X654G | intermediate | L578Q | unknown |
G219E | mild, intermediate | X654R | intermediate, severe | G168 V | unknown |
H240R | mild | M1 T | severe | F52 L | unknown |
E276K | mild, intermediate | G51D | severe | L396P | unknown |
W306 L | mild, intermediate | A75T | severe | P533R | unknown |
A319V | mild, intermediate | T103P | severe | H33P | unknown |
L346R | mild, intermediate | M133I | severe | A79V | unknown |
N348 K | milda | T141S | severe | G197S | unknown |
N350I | mild, intermediate | F177S | severe | W41X | severe |
Q380R | mild, intermediate | E182D | severe | C53X | severe |
R383H | mild, intermediate | E182K | severe | Q60X | severe |
T388R | mild | P183R | severe | Q63X | severe |
S423R | mild, intermediate | D203N | severe | Y64X | severe |
R492P | mild | G208D | severe | Q70X | severe |
S633 L | mild, intermediate | G208 V | severe | Y167X | severe |
M1I | intermediate | L218P | severe | Y201X | severe |
A75P | intermediate | L237R | severe | E274X | severe |
H82P | intermediate | L238R | severe | E299X | severe |
G84R | intermediatea | I270S | severe | Q310X | severe |
E178K | intermediate | L308P | severe | Y343X | severe |
T179R | intermediate, severe | D315Y | severe | W402X | severe |
F188 L | intermediatea | A327P | severe | E404X | severe |
G197D | intermediate | D349N | severe | W420X | severe |
L238Q | intermediate | D349Y | severe | Q561X | severe |
S260F | intermediatea | R363C | severe | Y581X | severe |
G265R | intermediate | T366P | severe | Q584X | severe |
R363H | intermediate | T374 N | severe | R619X | severe |
T364 M | intermediate | P385R | severe | R621X | severe |
A436P | intermediate | R489P | severe | W626X | severe |
G409R | severe | P496R | severe | R628X | severe |
L490P | intermediate | P533L | severe | ||
P496L | intermediate | F602I | severe |