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rs72645362
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
A novel mild variant of osteogenesis imperfecta type I caused by a Gly1088Glu mutation in COL1A1.
|
24682174 |
2014 |
|
rs72645362
|
|
|
0.710 |
GeneticVariation |
BEFREE |
One caused a substitution of glycine 200 by valine at the N-terminus of D1 in OI type I/IV, lowering collagen stability by 50% at 34 degrees C. The other one was a substitution of valine 349 by phenylalanine at the C-terminus of D1 in OI type I, lowering collagen stability at 37.5 degrees C. Two other mutations, reported before, changed amino residues in D4.
|
18670065 |
2008 |
|
rs72645362
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
One caused a substitution of glycine 200 by valine at the N-terminus of D1 in OI type I/IV, lowering collagen stability by 50% at 34 degrees C. The other one was a substitution of valine 349 by phenylalanine at the C-terminus of D1 in OI type I, lowering collagen stability at 37.5 degrees C. Two other mutations, reported before, changed amino residues in D4.
|
18670065 |
2008 |
|
rs72645362
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
Mutations in type I collagen genes in Japanese osteogenesis imperfecta patients.
|
17875077 |
2007 |
|
rs72645362
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV.
|
16786509 |
2006 |
|
rs72645362
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
Mutational spectrum of type I collagen genes in Korean patients with osteogenesis imperfecta.
|
16705691 |
2006 |
|
rs72645362
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
[A new mutation in COL1A1 gene in a family with osteogenesis imperfecta].
|
16638323 |
2006 |
|
rs72645362
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
Gly85 to Val substitution in pro alpha 1(I) chain causes mild osteogenesis imperfecta and introduces a susceptibility to protease digestion.
|
8223589 |
1993 |
|
rs72645362
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
Mild dominant osteogenesis imperfecta with intrafamilial variability: the cause is a serine for glycine alpha 1(I) 901 substitution in a type-I collagen gene.
|
1634225 |
1992 |
|
rs72645362
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
An osteopenic nonfracture syndrome with features of mild osteogenesis imperfecta associated with the substitution of a cysteine for glycine at triple helix position 43 in the pro alpha 1(I) chain of type I collagen.
|
1737847 |
1992 |
|
rs72645362
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
The substitution of arginine for glycine 85 of the alpha 1(I) procollagen chain results in mild osteogenesis imperfecta. The mutation provides direct evidence for three discrete domains of cooperative melting of intact type I collagen.
|
1718984 |
1991 |
|
rs72645362
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
Osteogenesis imperfecta. The position of substitution for glycine by cysteine in the triple helical domain of the pro alpha 1(I) chains of type I collagen determines the clinical phenotype.
|
2794057 |
1989 |
|
rs72645362
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
A cysteine for glycine substitution at position 1017 in an alpha 1(I) chain of type I collagen in a patient with mild dominantly inherited osteogenesis imperfecta.
|
3244312 |
1988 |