rs137852846
|
|
|
0.820 |
GeneticVariation |
BEFREE |
E130D, S155P, A177P, W179S, C218Y, R224W, N259I, P266L, A279V, C336R, R345C, A348P, R349Q and R349W associated with multiple sulfatase deficiency are yet to be computationally studied.
|
29048999 |
2018 |
rs137852846
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.
|
23519317 |
2013 |
rs137852846
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency.
|
21224894 |
2011 |
rs137852846
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Molecular analysis of SUMF1 mutations: stability and residual activity of mutant formylglycine-generating enzyme determine disease severity in multiple sulfatase deficiency.
|
18157819 |
2008 |
rs137852846
|
|
|
0.820 |
GeneticVariation |
BEFREE |
To correlate the nature of the residual sulfatase activities detected in MSD patients with residual FGE activity, four FGE mutants (i.e. p.S155P, p.R224W, p.R345C, p.R349W) found in homozygosis in MSD patients were analyzed.
|
17657823 |
2007 |
rs137852846
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency.
|
15146462 |
2004 |
rs137852846
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases.
|
12757706 |
2003 |
rs137852846
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C(alpha)-formylglycine generating enzyme.
|
12757705 |
2003 |
rs137852846
|
|
A |
0.820 |
GeneticVariation |
CLINVAR |
|
|
|
rs137852846
|
|
A |
0.820 |
CausalMutation |
CLINVAR |
|
|
|