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Mutations on the Protein: P12109 From Positions: 257 To 308

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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






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