|
rs1557196978
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG.
|
29396028 |
2018 |
|
rs121918374
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Congenital Cutis Laxa Type 2 Associated With Recurrent Aspiration Pneumonia and Growth Delay: Case Report.
|
26516448 |
2015 |
|
rs121918374
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa.
|
24035636 |
2013 |
|
rs121918374
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mutations in PYCR1 cause cutis laxa with progeroid features.
|
19648921 |
2009 |
|
rs121918374
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2.
|
19576563 |
2009 |
|
rs144346996
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Mutations in PYCR1 cause cutis laxa with progeroid features.
|
19648921 |
2009 |
|
rs1057518871
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs139751598
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs140119177
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs267607093
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs72653706
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs863225045
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs28939370
|
|
|
0.040 |
GeneticVariation |
BEFREE |
These data establish protein misfolding as a causative basis for the effects of G267S and S227P substitutions in AMD and CL, respectively, and raise the possibility that the I169T and G202R substitutions may be polymorphisms or may increase susceptibility to disease.
|
20599547 |
2010 |
|
rs28939370
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Fibulin 5 secretion was significantly reduced (P<0.001) for four ARMD (p.G412E, p.G267S, p.I169 T, and p.Q124P) and two cutis laxa (p.S227P, p.C217R) mutations.
|
16652333 |
2006 |
|
rs28939370
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Histological analysis of skin sections from a cutis laxa patient with a homozygous S227P mutation showed a lack of fibulin-5 in the extracellular matrix and a concomitant disorganization of dermal elastic fibers.
|
17035250 |
2006 |
|
rs28939370
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Molecular study of the fibulin-5 (FBLN5) gene in a large consanguineous Turkish family with four patients affected by AR cutis laxa type I demonstrated the presence of a homozygous missense mutation (T998C) in the FBLN5 gene resulting in a serine-to-proline (S227P) substitution in the fourth calcium-binding epidermal growth factor-like domain of fibulin-5 protein.
|
12189163 |
2002 |
|
rs80338766
|
|
|
0.030 |
GeneticVariation |
BEFREE |
We have recently reported a case of cutis laxa caused by a fibulin-5 missense mutation (p.C217R).
|
20613779 |
2010 |
|
rs80338766
|
|
|
0.030 |
GeneticVariation |
BEFREE |
A p.C217R mutation in fibulin-5 from cutis laxa patients is associated with incomplete extracellular matrix formation in a skin equivalent model.
|
18185537 |
2008 |
|
rs80338766
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Fibulin 5 secretion was significantly reduced (P<0.001) for four ARMD (p.G412E, p.G267S, p.I169 T, and p.Q124P) and two cutis laxa (p.S227P, p.C217R) mutations.
|
16652333 |
2006 |
|
rs121918376
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Our study provides insight into the possible role of the R119G mutation during interactions between P5CR and NAD, thus bettering our understanding of how the mutation promotes cutis laxa.
|
28095341 |
2017 |
|
rs121918376
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Among the 348 identified SNPs, 15 were predicted to be potentially damaging by both SIFT and PolyPhen tools; of them two SNP-derived mutations, R119G and G206W, have been previously reported to correlate with Cutis Laxa.
|
27677826 |
2017 |
|
rs121434303
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The results identified structural differences for the disease-causing cutis laxa mutants and for one AMD variant (G412E), suggesting that this may also be pathogenic.
|
20007835 |
2010 |
|
rs149396611
|
|
|
0.020 |
GeneticVariation |
BEFREE |
These data establish protein misfolding as a causative basis for the effects of G267S and S227P substitutions in AMD and CL, respectively, and raise the possibility that the I169T and G202R substitutions may be polymorphisms or may increase susceptibility to disease.
|
20599547 |
2010 |
|
rs121434303
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Fibulin 5 secretion was significantly reduced (P<0.001) for four ARMD (p.G412E, p.G267S, p.I169 T, and p.Q124P) and two cutis laxa (p.S227P, p.C217R) mutations.
|
16652333 |
2006 |
|
rs149396611
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Fibulin 5 secretion was significantly reduced (P<0.001) for four ARMD (p.G412E, p.G267S, p.I169 T, and p.Q124P) and two cutis laxa (p.S227P, p.C217R) mutations.
|
16652333 |
2006 |