Difference between revisions of "Protocol-msud-task5 protocol"

From Bioinformatikpedia
(→‎SNPdbe)
(→‎SNPdbe)
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= SNPdbe =
  
= SNPdbe =
 
<table border=1>
  
<table border=1>
  +
<table border=1>
−
<tr><td>Mutation </td><td> Experimental evidence </td><td> Pssm wt </td></tr>
  
−
<tr><td>V3G</td><td>Not validated</td><td>69</td></tr>
 +
<tr><td>Mutation </td><td> Experimental evidence </td><td> Disease </td></tr>
−
<tr><td>L17F</td><td>Not validated</td><td>29</td></tr>
 +
<tr><td>V3G</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>L17F</td><td>Not validated</td><td>31</td></tr>
 +
<tr><td>L17F</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>G29E</td><td>Not validated</td><td>34</td></tr>
 +
<tr><td>L17F</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>G29E</td><td>Not validated</td><td>27</td></tr>
 +
<tr><td>G29E</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>S36A</td><td>Not validated</td><td>36</td></tr>
 +
<tr><td>G29E</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>P39H</td><td>Not validated</td><td>42</td></tr>
 +
<tr><td>S36A</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>P39H</td><td>Not validated</td><td>40</td></tr>
 +
<tr><td>P39H</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>Q42R</td><td>Not validated</td><td>23</td></tr>
 +
<tr><td>P39H</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>Q42R</td><td>Not validated</td><td>26</td></tr>
 +
<tr><td>Q42R</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>A59V</td><td>Not validated</td><td>30</td></tr>
 +
<tr><td>Q42R</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>A59V</td><td>Not validated</td><td>32</td></tr>
 +
<tr><td>A59V</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>I62M</td><td>Not validated</td><td>8</td></tr>
 +
<tr><td>A59V</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>I62M</td><td>Not validated</td><td>7</td></tr>
 +
<tr><td>I62M</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>N71S</td><td>Not validated</td><td>12</td></tr>
 +
<tr><td>I62M</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>N71S</td><td>Not validated</td><td>12</td></tr>
 +
<tr><td>N71S</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>M82I</td><td>Not validated</td><td>10</td></tr>
 +
<tr><td>N71S</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>M82L</td><td>Not validated</td><td>10</td></tr>
 +
<tr><td>M82I</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>M82I</td><td>Not validated</td><td>11</td></tr>
 +
<tr><td>M82L</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>M82L</td><td>Not validated</td><td>10</td></tr>
 +
<tr><td>M82I</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>R117C</td><td>Not validated</td><td>6</td></tr>
 +
<tr><td>M82L</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>R117C</td><td>Not validated</td><td>6</td></tr>
 +
<tr><td>R117C</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>R127W</td><td>Not validated</td><td>23</td></tr>
 +
<tr><td>R117C</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>R127W</td><td>Not validated</td><td>21</td></tr>
 +
<tr><td>R127W</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>N150D</td><td>Not validated</td><td>4</td></tr>
 +
<tr><td>R127W</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>N150D</td><td>Not validated</td><td>4</td></tr>
 +
<tr><td>N150D</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>T151M</td><td>Not validated</td><td>7</td></tr>
 +
<tr><td>N150D</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>T151M</td><td>Not validated</td><td>7</td></tr>
 +
<tr><td>T151M</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>Q157A</td><td>Not validated</td><td>5</td></tr>
 +
<tr><td>T151M</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>Y158A</td><td>Not validated</td><td>6</td></tr>
 +
<tr><td>Q157A</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>R159W</td><td>Not validated</td><td>65</td></tr>
 +
<tr><td>Y158A</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>R159A</td><td>Not validated</td><td>65</td></tr>
 +
<tr><td>R159W</td><td>Not validated</td><td>maple syrup urine disease type ia (SwissVar)</td></tr>
−
<tr><td>P170S</td><td>Not validated</td><td>24</td></tr>
 +
<tr><td>R159A</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>P170S</td><td>Not validated</td><td>24</td></tr>
 +
<tr><td>P170S</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>Q190K</td><td>Not validated</td><td>19</td></tr>
 +
<tr><td>P170S</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>R200C</td><td>Not validated</td><td>6</td></tr>
 +
<tr><td>Q190K</td><td>Not validated</td><td>maple syrup urine disease type ia (SwissVar)</td></tr>
−
<tr><td>R200C</td><td>Not validated</td><td>6</td></tr>
 +
<tr><td>R200C</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>S207A</td><td>Not validated</td><td>12</td></tr>
 +
<tr><td>R200C</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>L209A</td><td>Not validated</td><td>6</td></tr>
 +
<tr><td>S207A</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>T211A</td><td>Not validated</td><td>13</td></tr>
 +
<tr><td>L209A</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>T211M</td><td>Not validated</td><td>13</td></tr>
 +
<tr><td>T211A</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>A222T</td><td>Not validated</td><td>60</td></tr>
 +
<tr><td>T211M</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>A222T</td><td>Not validated</td><td>60</td></tr>
 +
<tr><td>A222T</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>E238A</td><td>Not validated</td><td>8</td></tr>
 +
<tr><td>A222T</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>G244R</td><td>Not validated</td><td>72</td></tr>
 +
<tr><td>E238A</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>G244R</td><td>Not validated</td><td>71</td></tr>
 +
<tr><td>G244R</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>A248D</td><td>Not validated</td><td>5</td></tr>
 +
<tr><td>G244R</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>G249S</td><td>Not validated</td><td>11</td></tr>
 +
<tr><td>A248D</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>G249S</td><td>Not validated</td><td>11</td></tr>
 +
<tr><td>G249S</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>A253T</td><td>Not validated</td><td>66</td></tr>
 +
<tr><td>G249S</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>A253T</td><td>Not validated</td><td>70</td></tr>
 +
<tr><td>A253T</td><td>Not validated</td><td>maple syrup urine disease type ia (SwissVar)</td></tr>
−
<tr><td>A254D</td><td>Not validated</td><td>21</td></tr>
 +
<tr><td>A253T</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>C264W</td><td>Not validated</td><td>11</td></tr>
 +
<tr><td>A254D</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>C264W</td><td>Not validated</td><td>13</td></tr>
 +
<tr><td>C264W</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>R265W</td><td>Not validated</td><td>6</td></tr>
 +
<tr><td>C264W</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>R265W</td><td>Not validated</td><td>5</td></tr>
 +
<tr><td>R265W</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>R265K</td><td>Not validated</td><td>5</td></tr>
 +
<tr><td>R265W</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>R265A</td><td>Not validated</td><td>5</td></tr>
 +
<tr><td>R265K</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>N267S</td><td>Not validated</td><td>62</td></tr>
 +
<tr><td>R265A</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>Y269A</td><td>Not validated</td><td>21</td></tr>
 +
<tr><td>N267S</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>A285P</td><td>Not validated</td><td>32</td></tr>
 +
<tr><td>Y269A</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>G289R</td><td>Not validated</td><td>25</td></tr>
 +
<tr><td>A285P</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>G290R</td><td>Not validated</td><td>22</td></tr>
 +
<tr><td>G289R</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>R296C</td><td>Not validated</td><td>15</td></tr>
 +
<tr><td>G290R</td><td>Not validated</td><td>maple syrup urine disease type ia (SwissVar)</td></tr>
−
<tr><td>R297C</td><td>Not validated</td><td>17</td></tr>
 +
<tr><td>R296C</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>Y306H</td><td>Not validated</td><td>12</td></tr>
 +
<tr><td>R297C</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>Y307H</td><td>Not validated</td><td>12</td></tr>
 +
<tr><td>Y306H</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>T309R</td><td>Not validated</td><td>9</td></tr>
 +
<tr><td>Y307H</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>T310R</td><td>Not validated</td><td>8</td></tr>
 +
<tr><td>T309R</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>R313Q</td><td>Not validated</td><td>10</td></tr>
 +
<tr><td>T310R</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>R314Q</td><td>Not validated</td><td>10</td></tr>
 +
<tr><td>R313Q</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>I326T</td><td>Not validated</td><td>26</td></tr>
 +
<tr><td>R314Q</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>H336A</td><td>Not validated</td><td>52</td></tr>
 +
<tr><td>I326T</td><td>Not validated</td><td>maple syrup urine disease type ia (SwissVar)</td></tr>
−
<tr><td>S337D</td><td>Not validated</td><td>27</td></tr>
 +
<tr><td>H336A</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>A343V</td><td>Not validated</td><td>17</td></tr>
 +
<tr><td>S337D</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>A344V</td><td>Not validated</td><td>16</td></tr>
 +
<tr><td>A343V</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>R345C</td><td>Not validated</td><td>16</td></tr>
 +
<tr><td>A344V</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>S346L</td><td>Not validated</td><td>5</td></tr>
 +
<tr><td>R345C</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>R346C</td><td>Not validated</td><td>17</td></tr>
 +
<tr><td>S346L</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>S347L</td><td>Not validated</td><td>5</td></tr>
 +
<tr><td>R346C</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>W354F</td><td>Not validated</td><td>30</td></tr>
 +
<tr><td>S347L</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>Q356R</td><td>Not validated</td><td>7</td></tr>
 +
<tr><td>W354F</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>Q357R</td><td>Not validated</td><td>7</td></tr>
 +
<tr><td>Q356R</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>I360V</td><td>Not validated</td><td>32</td></tr>
 +
<tr><td>Q357R</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>I361V</td><td>Not validated</td><td>32</td></tr>
 +
<tr><td>I360V</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>E397K</td><td>Not validated</td><td>26</td></tr>
 +
<tr><td>I361V</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>E398K</td><td>Not validated</td><td>27</td></tr>
 +
<tr><td>E397K</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>R398Q</td><td>Not validated</td><td>6</td></tr>
 +
<tr><td>E398K</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>R399Q</td><td>Not validated</td><td>6</td></tr>
 +
<tr><td>R398Q</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>P402R</td><td>Not validated</td><td>53</td></tr>
 +
<tr><td>R399Q</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>P403R</td><td>Not validated</td><td>53</td></tr>
 +
<tr><td>P402R</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>N403S</td><td>Not validated</td><td>5</td></tr>
 +
<tr><td>P403R</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>N404S</td><td>Not validated</td><td>6</td></tr>
 +
<tr><td>N403S</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>F408C</td><td>Not validated</td><td>40</td></tr>
 +
<tr><td>N404S</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>F409C</td><td>Not validated</td><td>41</td></tr>
 +
<tr><td>F408C</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>Y413C</td><td>Not validated</td><td>57</td></tr>
 +
<tr><td>F409C</td><td>Not validated</td><td>maple syrup urine disease type ia (SwissVar)</td></tr>
−
<tr><td>Q423K</td><td>Not validated</td><td>4</td></tr>
 +
<tr><td>Y413C</td><td>Not validated</td><td>maple syrup urine disease type ia (SwissVar)</td></tr>
−
<tr><td>Q424K</td><td>Not validated</td><td>6</td></tr>
 +
<tr><td>Q423K</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>R428H</td><td>Not validated</td><td>13</td></tr>
 +
<tr><td>Q424K</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>R429H</td><td>Not validated</td><td>14</td></tr>
 +
<tr><td>R428H</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>Y437N</td><td>Not validated</td><td>51</td></tr>
 +
<tr><td>R429H</td><td>Not validated</td><td>N/A</td></tr>
−
<tr><td>Y438N</td><td>Not validated</td><td>53</td></tr>
 +
<tr><td>Y437N</td><td>Not validated</td><td>N/A</td></tr>
  +
<tr><td>Y438N</td><td>Not validated</td><td>maple syrup urine disease type ia (SwissVar)</td></tr>
 
</table>
  
</table>

Revision as of 17:49, 5 June 2012

HGMD

sequence used by HGMD can be found [here] 

>gi|38372929|ref|NM_000709.2| Homo sapiens branched chain keto acid dehydrogenase E1, alpha polypeptide (BCKDHA), mRNA
GCCGGACCGCTGAGTGGTTGTTAGCCAAGATGGCGGTAGCGATCGCTGCAGCGAGGGTCTGGCGGCTAAA
CCGTGGTTTGAGCCAGGCTGCCCTCCTGCTGCTGCGGCAGCCTGGGGCTCGGGGACTGGCTAGATCTCAC
CCCCCCAGGCAGCAGCAGCAGTTTTCATCTCTGGATGACAAGCCCCAGTTCCCAGGGGCCTCGGCGGAGT
TTATAGATAAGTTGGAATTCATCCAGCCCAACGTCATCTCTGGAATCCCCATCTACCGCGTCATGGACCG
GCAAGGCCAGATCATCAACCCCAGCGAGGACCCCCACCTGCCGAAGGAGAAGGTGCTGAAGCTCTACAAG
AGCATGACACTGCTTAACACCATGGACCGCATCCTCTATGAGTCTCAGCGGCAGGGCCGGATCTCCTTCT
ACATGACCAACTATGGTGAGGAGGGCACGCACGTGGGGAGTGCCGCCGCCCTGGACAACACGGACCTGGT
GTTTGGCCAGTACCGGGAGGCAGGTGTGCTGATGTATCGGGACTACCCCCTGGAACTATTCATGGCCCAG
TGCTATGGCAACATCAGTGACTTGGGCAAGGGGCGCCAGATGCCTGTCCACTACGGCTGCAAGGAACGCC
ACTTCGTCACTATCTCCTCTCCACTGGCCACGCAGATCCCTCAGGCGGTGGGGGCGGCGTACGCAGCCAA
GCGGGCCAATGCCAACAGGGTCGTCATCTGTTACTTCGGCGAGGGGGCAGCCAGTGAGGGGGACGCCCAT
GCCGGCTTCAACTTCGCTGCCACACTTGAGTGCCCCATCATCTTCTTCTGCCGGAACAATGGCTACGCCA
TCTCCACGCCCACCTCTGAGCAGTATCGCGGCGATGGCATTGCAGCACGAGGCCCCGGGTATGGCATCAT
GTCAATCCGCGTGGATGGTAATGATGTGTTTGCCGTATACAACGCCACAAAGGAGGCCCGACGGCGGGCT
GTGGCAGAGAACCAGCCCTTCCTCATCGAGGCCATGACCTACAGGATCGGGCACCACAGCACCAGTGACG
ACAGTTCAGCGTACCGCTCGGTGGATGAGGTCAATTACTGGGATAAACAGGACCACCCCATCTCCCGGCT
GCGGCACTATCTGCTGAGCCAAGGCTGGTGGGATGAGGAGCAGGAGAAGGCCTGGAGGAAGCAGTCCCGC
AGGAAGGTGATGGAGGCCTTTGAGCAGGCCGAGCGGAAGCCCAAACCCAACCCCAACCTACTCTTCTCAG
ACGTGTATCAGGAGATGCCCGCCCAGCTCCGCAAGCAGCAGGAGTCTCTGGCCCGCCACCTGCAGACCTA
CGGGGAGCACTACCCACTGGATCACTTCGATAAGTGAGACCTGCTCAGCCCACCCCCACCCATCCTCAGC
TACCCCGAGAGGTAGCCCCACTCTAAGGGGAGCAGGGGGACCTGACAGCACACCACTGTCTTCCCCAGTC
AGCTCCCTCTAAAATACTCAGCGGCCAGGGCGGCTGCCACTCTTCACCCCTGCTCCTCCCGGCTGTTACA
TTGTCAGGGGACAGCATCTGCAGCAGTTGCTGAGGCTCCGTCAGCCCCCTCTTCACCTGTTGTTACAGTG
CCTTCTCCCAGGGGCTGGGTGAGGGCACATTCAGGACTAGAAGCCCCTCTGGGCATGGGGTGGACATGGC
AGGTCAGCCTGTGGAACTTGCGCAGGTGCGAGTGGCCAGCAGAGGTCACGAATAAACTGCATCTCTGCGC
CTGGCTCTCTACCAAAAAAAAAAAAAAAAAA

All Missense/Nonsense mutations listed in HGMD: 

Q125E, T151M, D152N, R159W, Y166N, R167Q, Q190K, I213T, A216V, A220V, G249S, A253T, C258Y, C264W, R265W, N267S, G283D, A285P, 
R287TERM, G290R, R297C, R297H, G300S, D302A, T310R, R314TERM, I326T, E327K, A328T, R346H, R363W, F409C, V412M, Y413H, Y413C, Y438N,

SNPdbe

Mutation Experimental evidence Disease
V3GNot validatedN/A
L17FNot validatedN/A
L17FNot validatedN/A
G29ENot validatedN/A
G29ENot validatedN/A
S36ANot validatedN/A
P39HNot validatedN/A
P39HNot validatedN/A
Q42RNot validatedN/A
Q42RNot validatedN/A
A59VNot validatedN/A
A59VNot validatedN/A
I62MNot validatedN/A
I62MNot validatedN/A
N71SNot validatedN/A
N71SNot validatedN/A
M82INot validatedN/A
M82LNot validatedN/A
M82INot validatedN/A
M82LNot validatedN/A
R117CNot validatedN/A
R117CNot validatedN/A
R127WNot validatedN/A
R127WNot validatedN/A
N150DNot validatedN/A
N150DNot validatedN/A
T151MNot validatedN/A
T151MNot validatedN/A
Q157ANot validatedN/A
Y158ANot validatedN/A
R159WNot validatedmaple syrup urine disease type ia (SwissVar)
R159ANot validatedN/A
P170SNot validatedN/A
P170SNot validatedN/A
Q190KNot validatedmaple syrup urine disease type ia (SwissVar)
R200CNot validatedN/A
R200CNot validatedN/A
S207ANot validatedN/A
L209ANot validatedN/A
T211ANot validatedN/A
T211MNot validatedN/A
A222TNot validatedN/A
A222TNot validatedN/A
E238ANot validatedN/A
G244RNot validatedN/A
G244RNot validatedN/A
A248DNot validatedN/A
G249SNot validatedN/A
G249SNot validatedN/A
A253TNot validatedmaple syrup urine disease type ia (SwissVar)
A253TNot validatedN/A
A254DNot validatedN/A
C264WNot validatedN/A
C264WNot validatedN/A
R265WNot validatedN/A
R265WNot validatedN/A
R265KNot validatedN/A
R265ANot validatedN/A
N267SNot validatedN/A
Y269ANot validatedN/A
A285PNot validatedN/A
G289RNot validatedN/A
G290RNot validatedmaple syrup urine disease type ia (SwissVar)
R296CNot validatedN/A
R297CNot validatedN/A
Y306HNot validatedN/A
Y307HNot validatedN/A
T309RNot validatedN/A
T310RNot validatedN/A
R313QNot validatedN/A
R314QNot validatedN/A
I326TNot validatedmaple syrup urine disease type ia (SwissVar)
H336ANot validatedN/A
S337DNot validatedN/A
A343VNot validatedN/A
A344VNot validatedN/A
R345CNot validatedN/A
S346LNot validatedN/A
R346CNot validatedN/A
S347LNot validatedN/A
W354FNot validatedN/A
Q356RNot validatedN/A
Q357RNot validatedN/A
I360VNot validatedN/A
I361VNot validatedN/A
E397KNot validatedN/A
E398KNot validatedN/A
R398QNot validatedN/A
R399QNot validatedN/A
P402RNot validatedN/A
P403RNot validatedN/A
N403SNot validatedN/A
N404SNot validatedN/A
F408CNot validatedN/A
F409CNot validatedmaple syrup urine disease type ia (SwissVar)
Y413CNot validatedmaple syrup urine disease type ia (SwissVar)
Q423KNot validatedN/A
Q424KNot validatedN/A
R428HNot validatedN/A
R429HNot validatedN/A
Y437NNot validatedN/A
Y438NNot validatedmaple syrup urine disease type ia (SwissVar)
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