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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