rs137854461
|
|
|
0.820 |
GeneticVariation |
BEFREE |
In this study we have used three proteases to probe structural changes caused by an N2144S MFS calcium binding mutation in a TB6-cbEGF32 and a cbEGF32-33 domain pair, and an N2183S mutation in the cbEGF32-33 pair.
|
10942427 |
2000 |
rs137854461
|
|
|
0.820 |
GeneticVariation |
BEFREE |
We have also investigated the effect of defective calcium binding to cbEGF32 on fibrillin-1 produced by N2144S MFS fibroblasts.
|
9887276 |
1999 |
rs137854462
|
|
|
0.810 |
GeneticVariation |
BEFREE |
Here, we describe as a model system structural and functional consequences of two typical mutations in cbEGF modules of fibrillin-1 (N548I, E1073K), resulting in the Marfan syndrome.
|
10766875 |
2000 |
rs137854467
|
|
|
0.810 |
GeneticVariation |
BEFREE |
Correlation of the recurrent FBN1 mutation (c.364C>T) with a unique phenotype in a Chinese patient with Marfan syndrome.
|
19089573 |
2009 |
rs137854468
|
|
|
0.810 |
GeneticVariation |
BEFREE |
A missense mutation that changes a highly conserved glycine to serine (G1127S) has been identified in cbEGF13, which results in a variant of Marfan syndrome, a connective tissue disease.
|
11278305 |
2001 |
rs137854478
|
|
|
0.810 |
GeneticVariation |
BEFREE |
Here, we describe as a model system structural and functional consequences of two typical mutations in cbEGF modules of fibrillin-1 (N548I, E1073K), resulting in the Marfan syndrome.
|
10766875 |
2000 |
rs113393517
|
|
|
0.710 |
GeneticVariation |
BEFREE |
A mutation affecting a residue of the calcium-binding consensus sequence (K1300E) found in a patient with relatively mild clinical manifestations of classic MFS caused a modest increase in susceptibility to in vitro proteolysis by trypsin, whereas a mutation affecting the sixth cysteine residue of the same cbEGF module (C1320S) reported in a severely affected patient caused a dramatic increase in susceptibility to in vitro proteolysis by trypsin.
|
11071382 |
2000 |
rs113422242
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Enzymatic mutation detection (EMD) of novel mutations (R565X and R1523X) in the FBN1 gene of patients with Marfan syndrome using T4 endonuclease VII.
|
10874320 |
2000 |
rs193922185
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Individuals with p.R650C predominantly have EL, but do have risk for aortic dilation at ages later than typical for Marfan syndrome in general and for cysteine changes specifically.
|
28941062 |
2017 |
rs397515812
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Enzymatic mutation detection (EMD) of novel mutations (R565X and R1523X) in the FBN1 gene of patients with Marfan syndrome using T4 endonuclease VII.
|
10874320 |
2000 |
rs794728249
|
|
|
0.710 |
GeneticVariation |
BEFREE |
In six index cases/families referred for Marfan syndrome (MFS) molecular diagnosis, we identified six novel mutations in the FBN1 gene: c.1753G>C (p.Gly585Arg), c.2456G>A (p.Gly819Glu), c.4981G>A (p.Gly1661Arg), c.5339G>A (p.Gly1780Glu), c.6418G>A (p.Gly2140Arg) and c.6419G>A (p.Gly2140Glu).
|
19802897 |
2010 |
rs794728334
|
|
|
0.710 |
GeneticVariation |
BEFREE |
In this study, we generated human induced pluripotent stem cells (iPSCs) from dermal fibroblasts of an MFS patient with the p. E2130K (c. 6388G > A) mutation.
|
30870686 |
2019 |
rs140598
|
|
|
0.030 |
GeneticVariation |
BEFREE |
In this paper we analysed 10 British patients affected by MFS and we were able to characterise five novel missense mutations (C474W, C1402Y, G1987R, C2153Y, G2536R), one novel frameshift mutation (7926delC), one already described mutation (P1424A) and one FBN1 variant (P1148A) classified as a polymorphism in the Asian population.
|
11748851 |
2001 |
rs140598
|
|
|
0.030 |
GeneticVariation |
BEFREE |
In this paper we analysed 10 British patients affected by MFS and we were able to characterise five novel missense mutations (C474W, C1402Y, G1987R, C2153Y, G2536R), one novel frameshift mutation (7926delC), one already described mutation (P1424A) and one FBN1 variant (P1148A) classified as a polymorphism in the Asian population.
|
11524736 |
2001 |
rs140598
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The pathogenicity of the Pro1148Ala substitution in the FBN1 gene: causing or predisposing to Marfan syndrome and aortic aneurysm, or clinically innocent?
|
9150726 |
1997 |
rs61746008
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The R2726W mutation in the fibrillin 1 (FBN1, Marfan syndrome) gene segregates with isolated skeletal features of Marfan syndrome and/or high stature.
|
15598221 |
2004 |
rs61746008
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Primary protrusio acetabuli may represent a hitherto unidentified metabolic defect, and a possible candidate for such genetic influence is the R2726W variant of the fibrillin 1 (FBN1) gene, which segregates with isolated skeletal features of individuals with Marfan syndrome.
|
19396033 |
2009 |
rs61746008
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The presented cases confirm that the R2726W FBN1 variant is associated with skeletal features of MFS in the absence of cardiac or ocular findings.
|
26875674 |
2016 |
rs137854485
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Here, we report on two cousins from a consanguineous family with a homozygous c.1,453C>T FBN1 mutation (p.Arg485Cys) and MFS.
|
17568394 |
2007 |
rs137854485
|
|
|
0.020 |
GeneticVariation |
BEFREE |
In conclusion, FBN1 variant c.1453C>T, p.(Arg485Cys) is a pathogenic variant that can cause autosomal dominant Marfan syndrome characterized by a high degree of clinical variability and apparently isolated early onset familial abdominal aortic aneurysms.
|
30485715 |
2019 |
rs1057520131
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A C596G mutation in FBN1 was identified in a Chinese family with MFS.
|
25729264 |
2015 |
rs1064793118
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In six index cases/families referred for Marfan syndrome (MFS) molecular diagnosis, we identified six novel mutations in the FBN1 gene: c.1753G>C (p.Gly585Arg), c.2456G>A (p.Gly819Glu), c.4981G>A (p.Gly1661Arg), c.5339G>A (p.Gly1780Glu), c.6418G>A (p.Gly2140Arg) and c.6419G>A (p.Gly2140Glu).
|
19802897 |
2010 |
rs1085307528
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In six index cases/families referred for Marfan syndrome (MFS) molecular diagnosis, we identified six novel mutations in the FBN1 gene: c.1753G>C (p.Gly585Arg), c.2456G>A (p.Gly819Glu), c.4981G>A (p.Gly1661Arg), c.5339G>A (p.Gly1780Glu), c.6418G>A (p.Gly2140Arg) and c.6419G>A (p.Gly2140Glu).
|
19802897 |
2010 |
rs137854484
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In conclusion, the p.Cys1086Tyr mutation in FBN1 is consistently associated with neonatal MFS.
|
17366579 |
2007 |
rs747713929
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here we report the first mutation (G2950A) in exon 24 of the neonatal region of the FBN1 gene, associated with a classic MfS phenotype.
|
10694921 |
1998 |