rs28940280
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis.
|
9662406 |
1998 |
rs28940280
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Two novel CLN5 mutations in a Portuguese patient with vLINCL: insights into molecular mechanisms of CLN5 deficiency.
|
16814585 |
2006 |
rs28940280
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian sibship.
|
19309691 |
2009 |
rs28940280
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
|
21990111 |
2012 |
rs28940280
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis.
|
17607606 |
2007 |
rs28940280
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
This is further supported by overexpression of a CLN5 patient mutant D279N and a glycosylation mutant N401Q, showing that the C-terminal processing takes place beyond the endoplasmic reticulum, and can occur as early as from the trans Golgi network.
|
26342652 |
2015 |
rs28940280
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5.
|
24038957 |
2013 |
rs28940280
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
|
|
|
rs28940280
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
The role of N-glycosylation in folding, trafficking, and functionality of lysosomal protein CLN5.
|
24058541 |
2013 |
rs28940280
|
|
|
0.810 |
GeneticVariation |
BEFREE |
This is further supported by overexpression of a CLN5 patient mutant D279N and a glycosylation mutant N401Q, showing that the C-terminal processing takes place beyond the endoplasmic reticulum, and can occur as early as from the trans Golgi network.
|
26342652 |
2015 |
rs28940280
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset.
|
15728307 |
2005 |
rs28940280
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of mutations.
|
20052765 |
2010 |