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Mutations on the Protein: P21333 From Positions: 132 To 265

16
10
0
6






Swiss-Prot Disease: VAR_015717
p.ALA200SER
N/A
N/A
Otopalatodigital syndrome 2 (OPD2)


Swiss-Prot Disease: VAR_015715
p.ARG196GLY
N/A
N/A
Otopalatodigital syndrome 2 (OPD2)


Swiss-Prot Disease: VAR_015716
p.ARG196TRP
N/A
N/A
Otopalatodigital syndrome 1 (OPD1)


Swiss-Prot Disease: VAR_031308
p.ASP203TYR
N/A
N/A
Otopalatodigital syndrome 1 (OPD1)


Swiss-Prot Disease: VAR_058720
p.CYS210PHE
N/A
N/A
Otopalatodigital syndrome 2 (OPD2)


Swiss-Prot Disease: VAR_015713
p.GLN170PRO
N/A
N/A
Otopalatodigital syndrome 2 (OPD2)


Swiss-Prot Disease: VAR_015701
p.GLU254LYS
N/A
N/A
Otopalatodigital syndrome 2 (OPD2)


Swiss-Prot Disease: VAR_015714
p.LEU172PHE
N/A
N/A
Otopalatodigital syndrome 1 (OPD1)


Swiss-Prot Disease: VAR_015700
p.PRO207LEU
N/A
N/A
Otopalatodigital syndrome 1 (OPD1)


Swiss-Prot Disease: VAR_031307
p.SER149PHE
N/A
N/A
Periventricular nodular heterotopia 1 (PVNH1)


OMIM Disease: 300017.0026
p.ARG196TRP
N/A
N/A
OTOPALATODIGITAL SYNDROME, TYPE I||OTOPALATODIGITAL SYNDROME, TYPE II, INCLUDED


OMIM Disease: 300017.0020
p.ASP203TYR
N/A
N/A
OTOPALATODIGITAL SYNDROME, TYPE I


OMIM Disease: 300017.0027
p.CYS210PHE
N/A
N/A
OTOPALATODIGITAL SYNDROME, TYPE II


OMIM Disease: 300017.0001
p.GLN182TER
N/A
N/A
HETEROTOPIA, PERIVENTRICULAR NODULAR, X-LINKED DOMINANT


OMIM Disease: 300017.0010
p.GLU254LYS
N/A
N/A
OTOPALATODIGITAL SYNDROME, TYPE II


OMIM Disease: 300017.0009
p.PRO207LEU
N/A
N/A
OTOPALATODIGITAL SYNDROME, TYPE I






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