Home News About DMDM Database Statistics Research Publications Contact  

Mutations on the Protein: P38935 From Positions: 199 To 248

7
4
1
2






Swiss-Prot Disease: VAR_022324
p.CYS241ARG
N/A
N/A
Neuronopathy, distal hereditary motor, 6 (HMN6)


Swiss-Prot Disease: VAR_022322
p.HIS213ARG
N/A
N/A
Neuronopathy, distal hereditary motor, 6 (HMN6)


dbSNP Polymorphism: rs560096
p.LEU201SER
N/A
N/A
N/A


Swiss-Prot Disease: VAR_058499
p.PRO216LEU
N/A
N/A
Neuronopathy, distal hereditary motor, 6 (HMN6)


Swiss-Prot Disease: VAR_022323
p.THR221ALA
N/A
N/A
Neuronopathy, distal hereditary motor, 6 (HMN6)


OMIM Disease: 600502.0002
p.HIS213ARG
N/A
N/A
DISTAL SPINAL MUSCULAR ATROPHY, AUTOSOMAL RECESSIVE, 1


OMIM Disease: 600502.0006
p.LEU236TER
N/A
N/A
DISTAL SPINAL MUSCULAR ATROPHY, AUTOSOMAL RECESSIVE, 1






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