Mutations on the Protein: P12109 From Positions: 257 To 308
Swiss-Prot Disease: VAR_058216 
p.GLY275ARG
N/A
| |
N/A
|
|---|
Bethlem myopathy (BM)
|
|---|
Swiss-Prot Disease: VAR_058217 
p.GLY281ARG
N/A
| |
N/A
|
|---|
Ullrich congenital muscular dystrophy (UCMD)
|
|---|
Swiss-Prot Disease: VAR_058218 
p.GLY284ARG
N/A
| |
N/A
|
|---|
Ullrich congenital muscular dystrophy (UCMD)
|
|---|
Swiss-Prot Disease: VAR_058219 
p.GLY290ARG
N/A
| |
N/A
|
|---|
Ullrich congenital muscular dystrophy (UCMD)
|
|---|
Swiss-Prot Disease: VAR_058214 
p.GLY272ASP
N/A
| |
N/A
|
|---|
Bethlem myopathy (BM)
|
|---|
Swiss-Prot Disease: VAR_013581 
p.GLY305VAL
N/A
| |
N/A
|
|---|
Bethlem myopathy (BM)
|
|---|
Swiss-Prot Disease: VAR_058215 
p.PRO274LEU
N/A
| |
N/A
|
|---|
Bethlem myopathy (BM)
|
|---|
OMIM Disease: 120220.0014 
p.GLY281ARG
N/A
| |
N/A
|
|---|
ULLRICH CONGENITAL MUSCULAR DYSTROPHY, DIGENIC, COL6A1/COL6A2
|
|---|
OMIM Disease: 120220.0012 
p.GLY284ARG
N/A
| |
N/A
|
|---|
ULLRICH CONGENITAL MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT
|
|---|
OMIM Disease: 120220.0013 
p.GLY290ARG
N/A
| |
N/A
|
|---|
ULLRICH CONGENITAL MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT
|
|---|
OMIM Disease: 120220.0001 
p.GLY286VAL
N/A
| |
N/A
|
|---|
BETHLEM MYOPATHY
|
|---|
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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