Home News About DMDM Database Statistics Research Publications Contact  

Mutations on the Protein: Q9UKY4 From Positions: 338 To 375

4
2
0
2





Swiss-Prot Disease: VAR_065040
p.GLY353SER
N/A
N/A
Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2 (MDDGA2)


Swiss-Prot Disease: VAR_065041
p.VAL373PHE
N/A
N/A
Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2 (MDDGA2)


OMIM Disease: 607439.0012,607439.0014
p.GLY353SER
N/A
N/A
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),||TYPE B, 2


OMIM Disease: 607439.0008
p.VAL373PHE
N/A
N/A
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE||ANOMALIES), TYPE A, 2






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