Mutations on the Protein: P68133 From Positions: 320 To 339
Swiss-Prot Disease: VAR_062473 

p.GLU336ALA

N/A
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N/A
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Nemaline myopathy 3 (NEM3)
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Swiss-Prot Disease: VAR_062474 

p.LYS338GLU

N/A
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N/A
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Nemaline myopathy 3 (NEM3)
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Swiss-Prot Disease: VAR_062475 

p.LYS338ILE

N/A
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N/A
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Nemaline myopathy 3 (NEM3)
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Swiss-Prot Disease: VAR_032919 

p.PRO334SER

N/A
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N/A
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Myopathy, congenital, with fiber-type disproportion (CFTD)
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OMIM Disease: 102610.0010 

p.GLU334ALA

N/A
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N/A
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MYOPATHY, ACTIN, CONGENITAL, WITH CORES
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OMIM Disease: 102610.0016 

p.LYS328ASN

N/A
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N/A
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NEMALINE MYOPATHY 3
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OMIM Disease: 102610.0013 

p.PRO332SER

N/A
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N/A
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MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION
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Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.
DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD
21250 | Department of Biological Sciences | Phone: 410-455-2258 |
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