Skip to main content

Table 7 Phenotype/genotype correlation of missense and nonsense mutations in IDUA gene

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   
  1. awas added to predictions with relatively low reliability