Fabry:Mapping point mutations/SNPdbe data
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Revision as of 00:26, 10 June 2012 by Rackersederj (talk | contribs) (Created page with "<div style="float:left; border:thin solid lightgrey; margin: 0px 0px 20px 20px;"> <figtable id="tab:SNPdbe"> <caption>SNPs found in SNPdbe</caption> {| style="border-collapse: se…")
<figtable id="tab:SNPdbe"> SNPs found in SNPdbe
| SNP | disease/non-disease | Disease | Exp_evidence | Perc_wt | Perc_mt |
|---|---|---|---|---|---|
| L3P | non-disease | N/A | by freq | 3 | -2 |
| A20P | disease | fabry disease (SwissVar) | by cluster | 4 | -2 |
| A29T | non-disease | N/A | Not validated | 5 | -1 |
| N34S | disease | fabry disease (SwissVar) | Not validated | 7 | -1 |
| P40S | disease | fabry disease (SwissVar). Fabry's disease (PMD) | by cluster | 8 | -3 |
| C56G | disease | fabry disease (SwissVar) | Not validated | 5 | 0 |
| S65T | disease | fabry disease (SwissVar) | by cluster | 3 | 3 |
| E66Q | disease | fabry disease (SwissVar) | Not validated | 6 | 1 |
| C94Y | disease | fabry disease (SwissVar) | Not validated | 7 | -2 |
| R112C | disease | fabry disease (SwissVar) | Not validated | 5 | -3 |
| I117S | non-disease | N/A | by cluster | 4 | -3 |
| R118H | non-disease | N/A | Not validated | 2 | 0 |
| R118C | non-disease | N/A | by freq | 2 | -6 |
| S126G | non-disease | N/A | by freq | 3 | 1 |
| N139S | non-disease | N/A | Not validated | 3 | 0 |
| K140T | non-disease | N/A | Not validated | -1 | 0 |
| A143T | disease | fabry disease (SwissVar) | by cluster,freq | 2 | -1 |
| A143P | disease | fabry disease (SwissVar). Fabry disease (PMD) | by cluster,freq | 2 | 0 |
| P146S | disease | fabry disease (SwissVar). Fabry disease (PMD) | Not validated | 7 | -2 |
| D155H | non-disease | N/A | Not validated | 6 | -1 |
| A156T | disease | fabry disease (SwissVar) | by cluster | 5 | -2 |
| W162R | disease | fabry disease (SwissVar) | by cluster | 11 | -5 |
| C174G | non-disease | N/A | Not validated | 3 | 0 |
| H186R | non-disease | N/A | Not validated | 1 | 0 |
| L191P | non-disease | N/A | Not validated | 4 | -3 |
| C202W | disease | fabry disease (SwissVar). Fabry disease (PMD) | Not validated | 8 | -5 |
| N215S | disease | fabry disease (SwissVar) | by cluster | 2 | -2 |
| R227Q | disease | fabry disease (SwissVar) | Not validated | 8 | -1 |
| L243W | non-disease | N/A | Not validated | 1 | -1 |
| R252T | non-disease | N/A | Not validated | 2 | -1 |
| D264V | disease | fabry disease (SwissVar) | by cluster | 7 | -5 |
| D264Y | disease | fabry disease (SwissVar) | Not validated | 7 | -2 |
| D266V | disease | fabry disease (SwissVar) | by cluster | 6 | -4 |
| V269A | disease | fabry disease (SwissVar) | by cluster | 2 | -2 |
| N272S | disease | fabry disease (SwissVar) | by cluster | 5 | 0 |
| Q279E | disease | fabry disease (SwissVar) | by cluster | 4 | 6 |
| I289V | non-disease | N/A | 1000Genome | 5 | 1 |
| A292T | non-disease | N/A | Not validated | 3 | 0 |
| M296V | disease | fabry disease (SwissVar). Atypical variant of Fabry's disease (PMD) | by cluster | 4 | 1 |
| M296I | disease | fabry disease (SwissVar) | by cluster | 4 | 5 |
| S297F | disease | fabry disease (SwissVar) | by cluster | 3 | -5 |
| R301Q | disease | fabry disease (SwissVar). In Fabry disease (FD) (PMD) | by cluster | 4 | -1 |
| D313Y | disease | fabry disease (SwissVar) | 1000Genome,freq,cluster | 0 | -4 |
| V316I | non-disease | N/A | by freq | 4 | 3 |
| P323T | non-disease | N/A | Not validated | 4 | 1 |
| Q327K | disease | fabry disease (SwissVar). In Fabry disease (FD) (PMD) | by cluster | 5 | -1 |
| G328A | disease | fabry disease (SwissVar) | by cluster | 4 | 4 |
| G328R | disease | fabry disease (SwissVar) | by cluster | 4 | -3 |
| R342Q | disease | fabry disease (SwissVar). Fabry disease (PMD) | by cluster | 3 | -2 |
| R356W | disease | fabry disease (SwissVar) | by cluster | 3 | 5 |
| G361R | disease | fabry disease (SwissVar) | by cluster | 1 | 1 |
| R363H | disease | fabry disease (SwissVar) | Not validated | 3 | -1 |
| A368P | non-disease | N/A | by freq | 0 | 1 |
| C382Y | non-disease | N/A | Not validated | 2 | 2 |
| T410A | disease | fabry disease (SwissVar) | by cluster | 0 | -3 |
| L415P | non-disease | N/A | Not validated | 4 | -5 |
| M421V | non-disease | N/A | Not validated | 0 | 1 |
</figtable>
