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This database was initiated through the efforts of the Retinoschisis Consortium and is currently maintained by Dr J.T. den Dunnen. If you have identified new mutations, please report them as soon as possible.
Curat et al. (2001) have performed functional tests (i.e. in receptor expression, receptor activation and collagen binding) of the mutations Gly70Ser, Arg102Trp, Trp112Cys, Gly140Arg, Gly178Asp, Pro193Leu, Pro203Leu, Arg213Trp and Glu215Gln at the respective positions of the human DDR1 protein. Intracellular retention of mutant retinoschisin for other variants was recently described by Wang et al. 2002. 
| General information |
| Gene name |
Retinoschisis 1 (X-linked, juveline) |
| Gene symbol |
RS1 |
| Chromosome Location |
Xp22.2-p22.1 |
| Database location |
chromium.liacs.nl |
| Curator |
Johan T. den Dunnen and Markus Preising |
| PubMed references |
View all (unique) PubMed references in the RS1 database |
| Date of creation |
February 05, 1998 |
| Last update |
May 19, 2009 |
| Version |
RS1 090519 |
| Add sequence variant |
Submit a sequence variant |
| First time submitters |
Register here |
| Reference sequence |
coding DNA reference sequence for describing sequence variants |
| Total number of unique DNA variants reported |
179 |
| Total number of individuals with variant(s) |
1262 |
| Total number of variants reported |
2475 |
| Subscribe to updates of this gene |
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| Graphical displays and utilities |
| Summary tables |
Summary of all sequence variants in the RS1 database, sorted by type of variant (with graphical displays and statistics) |
| Search the database |
| By type of variant |
View all sequence variants of a certain type |
| Simple search |
Query the database by selecting the most important variables (exon number, type of variant, disease phenotype) |
| Advanced search |
Query the database by selecting a combination of variables |
| Based on patient origin |
View all variants based on your patient origin search terms |
| Search through hidden entries |
Find the number of variant entries in the database (including hidden entries) matching your search terms. |
| Copyright & disclaimer |
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2010. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.
We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided. |
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