|
Meretoja syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Gelsolin-derived familial amyloidosis caused by asparagine or tyrosine substitution for aspartic acid at residue 187.
|
1338910 |
1992 |
|
Meretoja syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Gelsolin variant (Asn-187) in familial amyloidosis, Finnish type.
|
2176481 |
1990 |
|
Meretoja syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
Meretoja syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
Amyloidosis
|
|
0.060 |
GeneticVariation
|
BEFREE |
Mutations (D187N/Y) in the second domain of gelsolin trigger the proteolytic pathway producing amyloidogenic fragments that form the pathological hallmark of gelsolin amyloidosis and lattice corneal dystrophy type 2 (LCD2).
|
29637772 |
2018 |
|
Amyloidosis
|
|
0.060 |
GeneticVariation
|
BEFREE |
Our study included 8 cases of acquired monoclonal immunoglobulin light chain amyloidosis, 11 cases of transthyretin amyloidosis (3 with the Val30Met mutation, 2 with the Val32Ala mutation, 2 with the Thr60Ala mutation, 1 with the Ala109Ser mutation, 1 with the Phe64Leu mutation, 1 with the Ala97Ser mutation, and 1 not sequenced), and 2 cases of gelsolin amyloidosis (1 with the Asp187Asn mutation and 1 not sequenced).
|
20937937 |
2011 |
|
Amyloidosis
|
|
0.060 |
GeneticVariation
|
BEFREE |
Cardiac conduction alterations in a French family with amyloidosis of the Finnish type with the p.Asp187Tyr mutation in the GSN gene.
|
16258946 |
2006 |
|
Amyloidosis
|
|
0.060 |
GeneticVariation
|
BEFREE |
Altered platelet shape change in hereditary gelsolin Asp187Asn-related amyloidosis.
|
10744159 |
2000 |
|
Amyloidosis
|
|
0.060 |
GeneticVariation
|
BEFREE |
The present study demonstrates the first successful in vitro creation of amyloid-like fibrils from Asn187 gelsolin peptides and provides evidence that amyloid formation in Finnish amyloidosis is a direct consequence of the Asp187----Asn substitution in gelsolin.
|
1311922 |
1992 |
|
Amyloidosis
|
|
0.060 |
GeneticVariation
|
BEFREE |
The gelsolin fragments isolated from at least one patient with amyloidosis have been reported to have an amino acid substitution, with asparagine replacing aspartic acid at position 187 of the plasma gelsolin.
|
1652889 |
1991 |
|
Amyloidosis, Familial
|
|
0.050 |
GeneticVariation
|
BEFREE |
Five affected family members were found to have a D187Y substitution in the GSN gene known to cause hereditary amyloidosis type IV.
|
28039894 |
2017 |
|
Amyloidosis, Familial
|
|
0.050 |
GeneticVariation
|
BEFREE |
A mutation (D187N/Y) in human plasma gelsolin (GSN) leads to the generation of an 8 kDa GSN fragment (8 kDa-GSN), and consequently causes the familial amyloidosis of Finnish type.
|
28465181 |
2017 |
|
Amyloidosis, Familial
|
|
0.050 |
GeneticVariation
|
BEFREE |
Mutation of aspartic acid 187 to asparagine (D187N) or tyrosine (D187Y) in domain 2 of the actin-modulating protein gelsolin causes the neurodegenerative disease familial amyloidosis of Finnish type (FAF).
|
14596804 |
2003 |
|
Amyloidosis, Familial
|
|
0.050 |
GeneticVariation
|
BEFREE |
Recently the Finnish form of hereditary amyloidosis with lattice corneal dystrophy has been shown to be due to a mutation in the gelsolin gene (G654----A; Asp187----Asn).
|
1319113 |
1992 |
|
Amyloidosis, Familial
|
|
0.050 |
GeneticVariation
|
BEFREE |
Finnish type of familial amyloidosis: cosegregation of Asp187----Asn mutation of gelsolin with the disease in three large families.
|
1652889 |
1991 |
|
Lattice corneal dystrophy Type II
|
|
0.040 |
GeneticVariation
|
BEFREE |
Finnish type familial amyloidosis (FAF) is a neurodegenerative disease, which involves the deposition of D187N or -Y mutant gelsolin fragments as amyloid in various tissues, accompanied by dermatologic, neurologic, and ophthalmologic disorders.
|
21545139 |
2011 |
|
Lattice corneal dystrophy Type II
|
|
0.040 |
GeneticVariation
|
BEFREE |
Familial amyloidosis-Finnish type (FAF) results from a single mutation at residue 187 (D187N or D187Y) within domain 2 of the actin-regulating protein gelsolin.
|
10995458 |
2000 |
|
Lattice corneal dystrophy Type II
|
|
0.040 |
GeneticVariation
|
BEFREE |
The Asp 187-->Asn (D187N) Asp 187-->Tyr (D187Y) gelsolin mutations facilitate two proteolytic cuts in the parent protein generating a 71-residue fragment that forms amyloid fibrils in humans, putatively causing Finnish type familial amyloidosis (FAF).
|
10322122 |
1999 |
|
Lattice corneal dystrophy Type II
|
|
0.040 |
GeneticVariation
|
BEFREE |
Asp187Asn mutation of gelsolin in an American kindred with familial amyloidosis, Finnish type (FAP IV).
|
7868127 |
1995 |
|
Familial Amyloid Polyneuropathy, Type V
|
|
0.020 |
GeneticVariation
|
BEFREE |
Mutations (D187N/Y) in the second domain of gelsolin trigger the proteolytic pathway producing amyloidogenic fragments that form the pathological hallmark of gelsolin amyloidosis and lattice corneal dystrophy type 2 (LCD2).
|
29637772 |
2018 |
|
Familial Amyloid Polyneuropathy, Type V
|
|
0.020 |
GeneticVariation
|
BEFREE |
Recently the Finnish form of hereditary amyloidosis with lattice corneal dystrophy has been shown to be due to a mutation in the gelsolin gene (G654----A; Asp187----Asn).
|
1319113 |
1992 |
|
Corneal dystrophy, Lattice type 3
|
|
0.010 |
GeneticVariation
|
BEFREE |
A patient having Finnish-type corneal amyloidosis had a p.D187N mutation in GSN.
|
24801599 |
2014 |
|
Amyloid of cornea
|
|
0.010 |
GeneticVariation
|
BEFREE |
A patient having Finnish-type corneal amyloidosis had a p.D187N mutation in GSN.
|
24801599 |
2014 |
|
Neurodegenerative Disorders
|
|
0.010 |
GeneticVariation
|
BEFREE |
Mutation of aspartic acid 187 to asparagine (D187N) or tyrosine (D187Y) in domain 2 of the actin-modulating protein gelsolin causes the neurodegenerative disease familial amyloidosis of Finnish type (FAF).
|
14596804 |
2003 |