Home News About DMDM Database Statistics Research Publications Contact  

Mutations on the Protein: Q00604 From Positions: 40 To 47

11
8
0
3



Swiss-Prot Disease: VAR_005480
p.ARG41LYS
N/A
N/A
Vitreoretinopathy, exudative 2 (EVR2)


Swiss-Prot Polymorphism: VAR_064000
p.ARG41SER
N/A
N/A
N/A


Swiss-Prot Disease: VAR_005481
p.HIS42ARG
N/A
N/A
Vitreoretinopathy, exudative 2 (EVR2)


Swiss-Prot Disease: VAR_064002
p.HIS43ARG
N/A
N/A
Norrie disease (ND)


Swiss-Prot Disease: VAR_064001
p.HIS43GLN
N/A
N/A
Norrie disease (ND)


Swiss-Prot Disease: VAR_005482
p.TYR44CYS
N/A
N/A
Norrie disease (ND)


Swiss-Prot Disease: VAR_064003
p.VAL45GLU
N/A
N/A
Norrie disease (ND)


Swiss-Prot Disease: VAR_064004
p.VAL45MET
N/A
N/A
Norrie disease (ND)


OMIM Disease: 300658.0013
p.HIS42ARG
N/A
N/A
EXUDATIVE VITREORETINOPATHY, X-LINKED


OMIM Disease: 300658.0004
p.TYR44CYS
N/A
N/A
NORRIE DISEASE


OMIM Disease: 300658.0019
p.VAL45GLU
N/A
N/A
NORRIE DISEASE






   |   1000 Hilltop Circle, Baltimore, MD 21250   |   Department of Biological Sciences   |   Phone: 410-455-2258