Difference between revisions of "Glucocerebrosidase disease causing mutations"

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(Created page with "<code> >sp|P04062|GLCM_HUMAN Glucosylceramidase OS=Homo sapiens GN=GBA PE=1 SV=3<br/> MEFSSPSREECP<span style="color:#ff0000">K</span>PLSRVSIMAGSLTGLLLLQAVS<span style="color:#ff…")
 
 
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The following sequence shows the different possibilities for mutated residues. As there are different mutations for the same position, all changed residues are shown, each in a separate line.
  +
 
<code>
 
<code>
>sp|P04062|GLCM_HUMAN Glucosylceramidase OS=Homo sapiens GN=GBA PE=1 SV=3<br/>
+
>sp|P04062|GLCM_HUMAN Glucosylceramidase OS=Homo sapiens GN=GBA PE=1 SV=3<br/><br/>
  +
MEFSSPSREECP<span style="color:#ff0000">K</span>PLSRVSIMAGSLTGLLLLQAVS<span style="color:#ff0000">W</span>ASGARPCIPKSF<span style="color:#ff0000">G</span>Y<span style="color:#ff0000">S</span>SV<span style="color:#ff0000">V</span><span style="color:#ff0000">C</span>VCNATYC<span style="color:#ff0000">D</span>SFDPPTFPAL<span style="color:#ff0000">G</span>T<span style="color:#ff0000">F</span>SRY<span style="color:#ff0000">E</span><span style="color:#ff0000">S</span><br/>MEFSSPSREECP<span style="color:#ff0000">R</span>PLSRVSIMAGSLTGLLLLQAVS<span style="color:#ff0000">!</span>ASGARPCIPKSF<span style="color:#ff0000">S</span>Y<span style="color:#ff0000">I</span>SV<span style="color:#ff0000">M</span><span style="color:#ff0000">S</span>VCNATYC<span style="color:#ff0000">N</span>SFDPPTFPAL<span style="color:#ff0000">S</span>T<span style="color:#ff0000">V</span>SRY<span style="color:#ff0000">K</span><span style="color:#ff0000">N</span><br/>MEFSSPSREECPKPLSRVSIMAGSLTGLLLLQAVSWASGARPCIPKSFGYSSV<span style="color:#ff0000">L</span>CVCNATYCDSFDPPTFPALGTFSRYES<br/>MEFSSPSREECPKPLSRVSIMAGSLTGLLLLQAVSWASGARPCIPKSFGYSSVVCVCNATYCDSFDPPTFPALGTFSRYES<br/><br/><span style="color:#ff0000">T</span>RS<span style="color:#ff0000">G</span><span style="color:#ff0000">R</span><span style="color:#ff0000">R</span>MELSMGPIQANHTGTGL<span style="color:#ff0000">L</span>LTLQPE<span style="color:#ff0000">Q</span><span style="color:#ff0000">K</span>FQK<span style="color:#ff0000">V</span><span style="color:#ff0000">K</span>GFGGA<span style="color:#ff0000">M</span>TDAA<span style="color:#ff0000">A</span>LNILALSPPAQNLL<span style="color:#ff0000">L</span>K<span style="color:#ff0000">S</span>Y<span style="color:#ff0000">F</span>S<span style="color:#ff0000">E</span>E<span style="color:#ff0000">G</span>IGY<span style="color:#ff0000">N</span>I<span style="color:#ff0000">I</span><span style="color:#ff0000">R</span><span style="color:#ff0000">V</span><span style="color:#ff0000">P</span><span style="color:#ff0000">M</span><br/><span style="color:#ff0000">I</span>RS<span style="color:#ff0000">E</span><span style="color:#ff0000">!</span><span style="color:#ff0000">W</span>MELSMGPIQANHTGTGL<span style="color:#ff0000">P</span>LTLQPE<span style="color:#ff0000">!</span><span style="color:#ff0000">!</span>FQK<span style="color:#ff0000">A</span><span style="color:#ff0000">N</span>GFGGA<span style="color:#ff0000">T</span>TDAA<span style="color:#ff0000">T</span>LNILALSPPAQNLL<span style="color:#ff0000">R</span>K<span style="color:#ff0000">L</span>Y<span style="color:#ff0000">V</span>S<span style="color:#ff0000">K</span>E<span style="color:#ff0000">E</span>IGY<span style="color:#ff0000">D</span>I<span style="color:#ff0000">T</span><span style="color:#ff0000">W</span><span style="color:#ff0000">A</span><span style="color:#ff0000">S</span><span style="color:#ff0000">T</span><br/>TRSGR<span style="color:#ff0000">Q</span>MELSMGPIQANHTGTGLLLTLQPEQKFQKVKGFGGAMTDAAALNILALSPPAQNLLLKSYFSEEGIGYNI<span style="color:#ff0000">S</span><span style="color:#ff0000">Q</span>V<span style="color:#ff0000">L</span><span style="color:#ff0000">V</span><br/>TRSGRRMELSMGPIQANHTGTGLLLTLQPEQKFQKVKGFGGAMTDAAALNILALSPPAQNLLLKSYFSEEGIGYNIIRVPM<br/><br/>ASC<span style="color:#ff0000">D</span>FSI<span style="color:#ff0000">R</span>TY<span style="color:#ff0000">T</span><span style="color:#ff0000">Y</span><span style="color:#ff0000">A</span>DTP<span style="color:#ff0000">D</span>DFQLHNFSLPE<span style="color:#ff0000">E</span>DTKL<span style="color:#ff0000">K</span>I<span style="color:#ff0000">P</span>L<span style="color:#ff0000">I</span><span style="color:#ff0000">H</span><span style="color:#ff0000">R</span>ALQLA<span style="color:#ff0000">Q</span><span style="color:#ff0000">R</span>PV<span style="color:#ff0000">S</span><span style="color:#ff0000">L</span>L<span style="color:#ff0000">A</span>S<span style="color:#ff0000">P</span><span style="color:#ff0000">W</span><span style="color:#ff0000">T</span>S<span style="color:#ff0000">P</span>T<span style="color:#ff0000">W</span><span style="color:#ff0000">L</span>KT<span style="color:#ff0000">N</span><span style="color:#ff0000">G</span><span style="color:#ff0000">A</span><span style="color:#ff0000">V</span>NGK<span style="color:#ff0000">G</span><span style="color:#ff0000">S</span><span style="color:#ff0000">L</span><span style="color:#ff0000">K</span>GQP<span style="color:#ff0000">G</span>DI<br/>ASC<span style="color:#ff0000">V</span>FSI<span style="color:#ff0000">C</span>TY<span style="color:#ff0000">I</span><span style="color:#ff0000">!</span><span style="color:#ff0000">E</span>DTP<span style="color:#ff0000">H</span>DFQLHNFSLPE<span style="color:#ff0000">A</span>DTKL<span style="color:#ff0000">N</span>I<span style="color:#ff0000">T</span>L<span style="color:#ff0000">N</span><span style="color:#ff0000">P</span><span style="color:#ff0000">!</span>ALQLA<span style="color:#ff0000">!</span><span style="color:#ff0000">P</span>PV<span style="color:#ff0000">!</span><span style="color:#ff0000">F</span>L<span style="color:#ff0000">D</span>S<span style="color:#ff0000">S</span><span style="color:#ff0000">!</span><span style="color:#ff0000">P</span>S<span style="color:#ff0000">T</span>T<span style="color:#ff0000">R</span><span style="color:#ff0000">F</span>KT<span style="color:#ff0000">S</span><span style="color:#ff0000">V</span><span style="color:#ff0000">T</span><span style="color:#ff0000">E</span>NGK<span style="color:#ff0000">E</span><span style="color:#ff0000">P</span><span style="color:#ff0000">F</span><span style="color:#ff0000">T</span>GQP<span style="color:#ff0000">R</span>DI<br/>ASCDFSI<span style="color:#ff0000">L</span>TY<span style="color:#ff0000">P</span>YADTPDDFQLHNFSLPEEDTKL<span style="color:#ff0000">Q</span>I<span style="color:#ff0000">L</span>L<span style="color:#ff0000">S</span>HRALQLAQ<span style="color:#ff0000">C</span>PVS<span style="color:#ff0000">P</span>LASPWTS<span style="color:#ff0000">L</span>TWLKT<span style="color:#ff0000">K</span>G<span style="color:#ff0000">E</span><span style="color:#ff0000">G</span>NGK<span style="color:#ff0000">W</span>S<span style="color:#ff0000">P</span><span style="color:#ff0000">E</span>GQP<span style="color:#ff0000">E</span>DI<br/>ASCDFSIRTYTYADTPDDFQLHNFSLPEEDTKLKIPLIHRALQLAQRPVSLLASPWTSPTWLKTNGAVNGKGSLKGQPGDI<br/><br/><span style="color:#ff0000">Y</span>HQT<span style="color:#ff0000">W</span><span style="color:#ff0000">A</span>R<span style="color:#ff0000">Y</span><span style="color:#ff0000">F</span>VK<span style="color:#ff0000">F</span>LDA<span style="color:#ff0000">Y</span>AEHKLQFWAV<span style="color:#ff0000">T</span>A<span style="color:#ff0000">E</span>NEP<span style="color:#ff0000">S</span>A<span style="color:#ff0000">G</span>LLS<span style="color:#ff0000">G</span><span style="color:#ff0000">Y</span><span style="color:#ff0000">P</span>FQCLG<span style="color:#ff0000">F</span>TPE<span style="color:#ff0000">H</span>Q<span style="color:#ff0000">R</span>D<span style="color:#ff0000">F</span><span style="color:#ff0000">I</span>ARDL<span style="color:#ff0000">G</span><span style="color:#ff0000">P</span>TLAN<span style="color:#ff0000">S</span>THHNVRL<span style="color:#ff0000">L</span>MLDDQ<span style="color:#ff0000">R</span><br/><span style="color:#ff0000">C</span>HQT<span style="color:#ff0000">R</span><span style="color:#ff0000">V</span>R<span style="color:#ff0000">H</span><span style="color:#ff0000">I</span>VK<span style="color:#ff0000">V</span>LDA<span style="color:#ff0000">C</span>AEHKLQFWAV<span style="color:#ff0000">R</span>A<span style="color:#ff0000">D</span>NEP<span style="color:#ff0000">P</span>A<span style="color:#ff0000">V</span>LLS<span style="color:#ff0000">V</span><span style="color:#ff0000">H</span><span style="color:#ff0000">H</span>FQCLG<span style="color:#ff0000">L</span>TPE<span style="color:#ff0000">Q</span>Q<span style="color:#ff0000">Q</span>D<span style="color:#ff0000">L</span><span style="color:#ff0000">T</span>ARDL<span style="color:#ff0000">D</span><span style="color:#ff0000">R</span>TLAN<span style="color:#ff0000">N</span>THHNVRL<span style="color:#ff0000">P</span>MLDDQ<span style="color:#ff0000">C</span><br/>YHQTWARY<span style="color:#ff0000">C</span>VK<span style="color:#ff0000">Y</span>LDAYAEHKLQFWAVTA<span style="color:#ff0000">!</span>NEPSAGLLSGYPFQCLGFTPEHQ<span style="color:#ff0000">!</span>DFIARDLG<span style="color:#ff0000">L</span>TLANSTHHNVRLLMLDDQ<span style="color:#ff0000">H</span><br/>YHQTWARYFVKFLDAYAEHKLQFWAVTAENEPSAGLLSGYPFQCLGFTPEHQRDFIARDLG<span style="color:#ff0000">A</span>TLANSTHHNVRLLMLDDQR<br/><br/>LLL<span style="color:#ff0000">P</span>HWAKVV<span style="color:#ff0000">L</span>TDPEAA<span style="color:#ff0000">K</span><span style="color:#ff0000">Y</span><span style="color:#ff0000">V</span>HGI<span style="color:#ff0000">A</span>V<span style="color:#ff0000">H</span><span style="color:#ff0000">W</span><span style="color:#ff0000">Y</span>L<span style="color:#ff0000">D</span>FL<span style="color:#ff0000">A</span><span style="color:#ff0000">P</span>AKA<span style="color:#ff0000">T</span><span style="color:#ff0000">L</span><span style="color:#ff0000">G</span><span style="color:#ff0000">E</span>TH<span style="color:#ff0000">R</span>L<span style="color:#ff0000">F</span>PNTM<span style="color:#ff0000">L</span>FASE<span style="color:#ff0000">A</span><span style="color:#ff0000">C</span>VGSKF<span style="color:#ff0000">W</span><span style="color:#ff0000">E</span><span style="color:#ff0000">Q</span>S<span style="color:#ff0000">V</span><span style="color:#ff0000">R</span>L<span style="color:#ff0000">G</span><span style="color:#ff0000">S</span><span style="color:#ff0000">W</span>D<span style="color:#ff0000">R</span>G<span style="color:#ff0000">M</span>Q<span style="color:#ff0000">Y</span><span style="color:#ff0000">S</span>H<span style="color:#ff0000">S</span><br/>LLL<span style="color:#ff0000">L</span>HWAKVV<span style="color:#ff0000">L</span>TDPEAA<span style="color:#ff0000">I</span><span style="color:#ff0000">C</span><span style="color:#ff0000">L</span>HGI<span style="color:#ff0000">V</span>V<span style="color:#ff0000">R</span><span style="color:#ff0000">C</span><span style="color:#ff0000">H</span>L<span style="color:#ff0000">H</span>FL<span style="color:#ff0000">D</span><span style="color:#ff0000">A</span>AKA<span style="color:#ff0000">I</span><span style="color:#ff0000">Q</span><span style="color:#ff0000">R</span><span style="color:#ff0000">K</span>TH<span style="color:#ff0000">C</span>L<span style="color:#ff0000">S</span>PNTM<span style="color:#ff0000">P</span>FASE<span style="color:#ff0000">T</span><span style="color:#ff0000">R</span>VGSKF<span style="color:#ff0000">G</span><span style="color:#ff0000">K</span><span style="color:#ff0000">!</span>S<span style="color:#ff0000">L</span><span style="color:#ff0000">G</span>L<span style="color:#ff0000">D</span><span style="color:#ff0000">F</span><span style="color:#ff0000">!</span>D<span style="color:#ff0000">Q</span>G<span style="color:#ff0000">I</span>Q<span style="color:#ff0000">C</span><span style="color:#ff0000">N</span>H<span style="color:#ff0000">N</span><br/>LLLPHWAKVVLTDPEAAK<span style="color:#ff0000">!</span>VHGIAVH<span style="color:#ff0000">R</span>YLDFLAPAKAT<span style="color:#ff0000">P</span><span style="color:#ff0000">W</span>ETHRLFPNTMLFASEA<span style="color:#ff0000">G</span>VGSKFWEQSV<span style="color:#ff0000">W</span>LGSWD<span style="color:#ff0000">!</span>GMQY<span style="color:#ff0000">T</span>H<span style="color:#ff0000">T</span><br/>LLLPHWAKVVLTDPEAAKYVHGIAVHWYLDFLAPAKATLGETHRLFPNTMLFASEA<span style="color:#ff0000">Y</span>VGSKFWEQSVRLGSWDRGMQY<span style="color:#ff0000">R</span>H<span style="color:#ff0000">G</span><br/><br/>II<span style="color:#ff0000">T</span><span style="color:#ff0000">N</span><span style="color:#ff0000">L</span>LYH<span style="color:#ff0000">V</span>V<span style="color:#ff0000">G</span><span style="color:#ff0000">W</span>T<span style="color:#ff0000">D</span><span style="color:#ff0000">W</span><span style="color:#ff0000">N</span><span style="color:#ff0000">L</span>A<span style="color:#ff0000">L</span>N<span style="color:#ff0000">P</span><span style="color:#ff0000">E</span><span style="color:#ff0000">G</span><span style="color:#ff0000">G</span><span style="color:#ff0000">P</span><span style="color:#ff0000">N</span><span style="color:#ff0000">W</span><span style="color:#ff0000">V</span><span style="color:#ff0000">R</span><span style="color:#ff0000">N</span><span style="color:#ff0000">F</span><span style="color:#ff0000">V</span><span style="color:#ff0000">D</span>S<span style="color:#ff0000">P</span><span style="color:#ff0000">I</span>IVDITK<span style="color:#ff0000">D</span>T<span style="color:#ff0000">F</span><span style="color:#ff0000">Y</span><span style="color:#ff0000">K</span><span style="color:#ff0000">Q</span><span style="color:#ff0000">P</span><span style="color:#ff0000">M</span><span style="color:#ff0000">F</span><span style="color:#ff0000">Y</span>HL<span style="color:#ff0000">G</span>HFS<span style="color:#ff0000">K</span>FIPEGSQ<span style="color:#ff0000">R</span>VGLVASQKND<span style="color:#ff0000">L</span>D<span style="color:#ff0000">A</span>V<br/>II<span style="color:#ff0000">M</span><span style="color:#ff0000">S</span><span style="color:#ff0000">V</span>LYH<span style="color:#ff0000">L</span>V<span style="color:#ff0000">S</span><span style="color:#ff0000">G</span>T<span style="color:#ff0000">N</span><span style="color:#ff0000">!</span><span style="color:#ff0000">K</span><span style="color:#ff0000">R</span>A<span style="color:#ff0000">P</span>N<span style="color:#ff0000">L</span><span style="color:#ff0000">!</span><span style="color:#ff0000">E</span><span style="color:#ff0000">R</span><span style="color:#ff0000">L</span><span style="color:#ff0000">I</span><span style="color:#ff0000">L</span><span style="color:#ff0000">L</span><span style="color:#ff0000">P</span><span style="color:#ff0000">T</span><span style="color:#ff0000">S</span><span style="color:#ff0000">I</span><span style="color:#ff0000">N</span>S<span style="color:#ff0000">L</span><span style="color:#ff0000">T</span>IVDITK<span style="color:#ff0000">G</span>T<span style="color:#ff0000">I</span><span style="color:#ff0000">H</span><span style="color:#ff0000">Q</span><span style="color:#ff0000">!</span><span style="color:#ff0000">R</span><span style="color:#ff0000">V</span><span style="color:#ff0000">V</span><span style="color:#ff0000">C</span>HL<span style="color:#ff0000">D</span>HFS<span style="color:#ff0000">E</span>FIPEGSQ<span style="color:#ff0000">S</span>VGLVASQKND<span style="color:#ff0000">P</span>D<span style="color:#ff0000">P</span>V<br/>IIT<span style="color:#ff0000">K</span>LLYHVVG<span style="color:#ff0000">!</span>T<span style="color:#ff0000">H</span>WNLALNPEGGPN<span style="color:#ff0000">R</span>V<span style="color:#ff0000">C</span>NF<span style="color:#ff0000">L</span><span style="color:#ff0000">Y</span>SP<span style="color:#ff0000">F</span>IVDITK<span style="color:#ff0000">V</span>TFYK<span style="color:#ff0000">R</span>PMFYHLGHFSKFIPEGSQ<span style="color:#ff0000">G</span>VGLVASQKND<span style="color:#ff0000">R</span>DAV<br/>IITNLLYHVVGWT<span style="color:#ff0000">A</span>WNLALNPEGGPNWVRNF<span style="color:#ff0000">F</span>DSPIIVDITK<span style="color:#ff0000">H</span>TFYKQPMFYHLGHFSKFIPEGSQRVGLVASQKNDLDAV<br/><br/>ALM<span style="color:#ff0000">H</span>PDGS<span style="color:#ff0000">A</span>VVV<span style="color:#ff0000">V</span><span style="color:#ff0000">L</span><span style="color:#ff0000">N</span><span style="color:#ff0000">R</span>SSKDVPLTIK<span style="color:#ff0000">D</span>PAV<span style="color:#ff0000">G</span>F<span style="color:#ff0000">L</span>ETISPGY<span style="color:#ff0000">S</span><span style="color:#ff0000">I</span>H<span style="color:#ff0000">T</span>YLWR<span style="color:#ff0000">R</span><span style="color:#ff0000">Q</span>
MEFSSPSREECP<span style="color:#ff0000">K</span>PLSRVSIMAGSLTGLLLLQAVS<span style="color:#ff0000">W</span>ASGARPCIPKSF<span style="color:#ff0000">G</span>Y<span style="color:#ff0000">S</span>SV<span style="color:#ff0000"><span style="color:#ff0000">V</span></span><span style="color:#ff0000">C</span>VCNATYC<span style="color:#ff0000">D</span>SFDPPTFPAL<span style="color:#ff0000">G</span>T<span style="color:#ff0000">F</span>SRY<span style="color:#ff0000">E</span><span style="color:#ff0000">S</span><br/>
 
<span style="color:#ff0000">T</span>RS<span style="color:#ff0000">G</span><span style="color:#ff0000">R</span><span style="color:#ff0000"><span style="color:#ff0000">R</span></span>MELSMGPIQANHTGTGL<span style="color:#ff0000">L</span>LTLQPE<span style="color:#ff0000">Q</span><span style="color:#ff0000">K</span>FQK<span style="color:#ff0000">V</span><span style="color:#ff0000">K</span>GFGGA<span style="color:#ff0000">M</span>TDAA<span style="color:#ff0000">A</span>LNILALSPPAQNLL<span style="color:#ff0000">L</span>K<span style="color:#ff0000">S</span>Y<span style="color:#ff0000">F</span>S<span style="color:#ff0000">E</span>E<span style="color:#ff0000">G</span>IGY<span style="color:#ff0000">N</span>I<span style="color:#ff0000"><span style="color:#ff0000">I</span></span><span style="color:#ff0000"><span style="color:#ff0000">R</span></span><span style="color:#ff0000">V</span><span style="color:#ff0000"><span style="color:#ff0000">P</span></span><span style="color:#ff0000"><span style="color:#ff0000">M</span></span><br/>
+
<br/>ALM<span style="color:#ff0000">R</span>PDGS<span style="color:#ff0000">P</span>VVV<span style="color:#ff0000">M</span><span style="color:#ff0000">P</span><span style="color:#ff0000">S</span><span style="color:#ff0000">C</span>SSKDVPLTIK<span style="color:#ff0000">Y</span>PAV<span style="color:#ff0000">S</span>F<span style="color:#ff0000">P</span>ETISPGY<span style="color:#ff0000">P</span><span style="color:#ff0000">T</span>H<span style="color:#ff0000">I</span>YLWR<span style="color:#ff0000">H</span><span style="color:#ff0000">R</span>
  +
<br/>ALMHPDGSAVVVVL<span style="color:#ff0000">K</span><span style="color:#ff0000">H</span>SSKDVPLTIKDPAVGFLETISPGYSIHTYLWR<span style="color:#ff0000">C</span>Q
ASC<span style="color:#ff0000">D</span>FSI<span style="color:#ff0000"><span style="color:#ff0000">R</span></span>TY<span style="color:#ff0000"><span style="color:#ff0000">T</span></span><span style="color:#ff0000">Y</span><span style="color:#ff0000">A</span>DTP<span style="color:#ff0000">D</span>DFQLHNFSLPE<span style="color:#ff0000">E</span>DTKL<span style="color:#ff0000"><span style="color:#ff0000">K</span></span>I<span style="color:#ff0000"><span style="color:#ff0000">P</span></span>L<span style="color:#ff0000"><span style="color:#ff0000">I</span></span><span style="color:#ff0000">H</span><span style="color:#ff0000">R</span>ALQLA<span style="color:#ff0000">Q</span><span style="color:#ff0000"><span style="color:#ff0000">R</span></span>PV<span style="color:#ff0000">S</span><span style="color:#ff0000"><span style="color:#ff0000">L</span></span>L<span style="color:#ff0000">A</span>S<span style="color:#ff0000">P</span><span style="color:#ff0000">W</span><span style="color:#ff0000">T</span>S<span style="color:#ff0000"><span style="color:#ff0000">P</span></span>T<span style="color:#ff0000">W</span><span style="color:#ff0000">L</span>KT<span style="color:#ff0000"><span style="color:#ff0000">N</span></span><span style="color:#ff0000">G</span><span style="color:#ff0000"><span style="color:#ff0000">A</span></span><span style="color:#ff0000"><span style="color:#ff0000">V</span></span>NGK<span style="color:#ff0000"><span style="color:#ff0000">G</span></span><span style="color:#ff0000">S</span><span style="color:#ff0000"><span style="color:#ff0000">L</span></span><span style="color:#ff0000"><span style="color:#ff0000">K</span></span>GQP<span style="color:#ff0000"><span style="color:#ff0000">G</span></span>DI<br/>
 
  +
<br/>ALMHPDGSAVVVVLN<span style="color:#ff0000">P</span>SSKDVPLTIKDPAVGFLETISPGYSIHTYLWRRQ
<span style="color:#ff0000">Y</span>HQT<span style="color:#ff0000">W</span><span style="color:#ff0000">A</span>R<span style="color:#ff0000">Y</span><span style="color:#ff0000"><span style="color:#ff0000">F</span></span>VK<span style="color:#ff0000"><span style="color:#ff0000">F</span></span>LDA<span style="color:#ff0000">Y</span>AEHKLQFWAV<span style="color:#ff0000">T</span>A<span style="color:#ff0000"><span style="color:#ff0000">E</span></span>NEP<span style="color:#ff0000">S</span>A<span style="color:#ff0000">G</span>LLS<span style="color:#ff0000">G</span><span style="color:#ff0000">Y</span><span style="color:#ff0000">P</span>FQCLG<span style="color:#ff0000">F</span>TPE<span style="color:#ff0000">H</span>Q<span style="color:#ff0000"><span style="color:#ff0000">R</span></span>D<span style="color:#ff0000">F</span><span style="color:#ff0000">I</span>ARDL<span style="color:#ff0000">G</span><span style="color:#ff0000"><span style="color:#ff0000"><span style="color:#ff0000">P</span></span></span>TLAN<span style="color:#ff0000">S</span>THHNVRL<span style="color:#ff0000">L</span>MLDDQ<span style="color:#ff0000"><span style="color:#ff0000">R</span></span><br/>
 
  +
<br/><br/></code>
LLL<span style="color:#ff0000">P</span>HWAKVV<span style="color:#ff0000">L</span>TDPEAA<span style="color:#ff0000">K</span><span style="color:#ff0000"><span style="color:#ff0000">Y</span></span><span style="color:#ff0000">V</span>HGI<span style="color:#ff0000">A</span>V<span style="color:#ff0000">H</span><span style="color:#ff0000"><span style="color:#ff0000">W</span></span><span style="color:#ff0000">Y</span>L<span style="color:#ff0000">D</span>FL<span style="color:#ff0000">A</span><span style="color:#ff0000">P</span>AKA<span style="color:#ff0000">T</span><span style="color:#ff0000"><span style="color:#ff0000">L</span></span><span style="color:#ff0000"><span style="color:#ff0000">G</span></span><span style="color:#ff0000">E</span>TH<span style="color:#ff0000">R</span>L<span style="color:#ff0000">F</span>PNTM<span style="color:#ff0000">L</span>FASE<span style="color:#ff0000">A</span><span style="color:#ff0000"><span style="color:#ff0000"><span style="color:#ff0000">C</span></span></span>VGSKF<span style="color:#ff0000">W</span><span style="color:#ff0000">E</span><span style="color:#ff0000">Q</span>S<span style="color:#ff0000">V</span><span style="color:#ff0000"><span style="color:#ff0000">R</span></span>L<span style="color:#ff0000">G</span><span style="color:#ff0000">S</span><span style="color:#ff0000">W</span>D<span style="color:#ff0000"><span style="color:#ff0000">R</span></span>G<span style="color:#ff0000">M</span>Q<span style="color:#ff0000">Y</span><span style="color:#ff0000"><span style="color:#ff0000"><span style="color:#ff0000">S</span></span></span>H<span style="color:#ff0000"><span style="color:#ff0000"><span style="color:#ff0000">S</span></span></span><br/>
 
II<span style="color:#ff0000">T</span><span style="color:#ff0000"><span style="color:#ff0000">N</span></span><span style="color:#ff0000">L</span>LYH<span style="color:#ff0000">V</span>V<span style="color:#ff0000">G</span><span style="color:#ff0000"><span style="color:#ff0000">W</span></span>T<span style="color:#ff0000"><span style="color:#ff0000"><span style="color:#ff0000">D</span></span></span><span style="color:#ff0000">W</span><span style="color:#ff0000">N</span><span style="color:#ff0000">L</span>A<span style="color:#ff0000">L</span>N<span style="color:#ff0000">P</span><span style="color:#ff0000">E</span><span style="color:#ff0000">G</span><span style="color:#ff0000">G</span><span style="color:#ff0000">P</span><span style="color:#ff0000">N</span><span style="color:#ff0000"><span style="color:#ff0000">W</span></span><span style="color:#ff0000">V</span><span style="color:#ff0000"><span style="color:#ff0000">R</span></span><span style="color:#ff0000">N</span><span style="color:#ff0000">F</span><span style="color:#ff0000"><span style="color:#ff0000"><span style="color:#ff0000">V</span></span></span><span style="color:#ff0000"><span style="color:#ff0000">D</span></span>S<span style="color:#ff0000">P</span><span style="color:#ff0000"><span style="color:#ff0000">I</span></span>IVDITK<span style="color:#ff0000"><span style="color:#ff0000"><span style="color:#ff0000">D</span></span></span>T<span style="color:#ff0000">F</span><span style="color:#ff0000">Y</span><span style="color:#ff0000">K</span><span style="color:#ff0000"><span style="color:#ff0000">Q</span></span><span style="color:#ff0000">P</span><span style="color:#ff0000">M</span><span style="color:#ff0000">F</span><span style="color:#ff0000">Y</span>HL<span style="color:#ff0000">G</span>HFS<span style="color:#ff0000">K</span>FIPEGSQ<span style="color:#ff0000"><span style="color:#ff0000">R</span></span>VGLVASQKND<span style="color:#ff0000"><span style="color:#ff0000">L</span></span>D<span style="color:#ff0000">A</span>V<br/>
 
ALM<span style="color:#ff0000">H</span>PDGS<span style="color:#ff0000">A</span>VVV<span style="color:#ff0000">V</span><span style="color:#ff0000">L</span><span style="color:#ff0000"><span style="color:#ff0000">N</span></span><span style="color:#ff0000"><span style="color:#ff0000"><span style="color:#ff0000">R</span></span></span>SSKDVPLTIK<span style="color:#ff0000">D</span>PAV<span style="color:#ff0000">G</span>F<span style="color:#ff0000">L</span>ETISPGY<span style="color:#ff0000">S</span><span style="color:#ff0000">I</span>H<span style="color:#ff0000">T</span>YLWR<span style="color:#ff0000"><span style="color:#ff0000">R</span></span><span style="color:#ff0000">Q</span>
 
</code>
 
   
Posistions for possible missense/nonsense mutations are marked <span style="color:#ff0000">red</span>.
+
The first row shows the original sequence, the second, third and fourth line show mutated residues. Positions for possible missense/nonsense mutations are marked <span style="color:#ff0000">red</span>. A "!" stands for a termination codon.

Latest revision as of 09:24, 18 August 2011

The following sequence shows the different possibilities for mutated residues. As there are different mutations for the same position, all changed residues are shown, each in a separate line.

>sp|P04062|GLCM_HUMAN Glucosylceramidase OS=Homo sapiens GN=GBA PE=1 SV=3

MEFSSPSREECPKPLSRVSIMAGSLTGLLLLQAVSWASGARPCIPKSFGYSSVVCVCNATYCDSFDPPTFPALGTFSRYES
MEFSSPSREECPRPLSRVSIMAGSLTGLLLLQAVS!ASGARPCIPKSFSYISVMSVCNATYCNSFDPPTFPALSTVSRYKN
MEFSSPSREECPKPLSRVSIMAGSLTGLLLLQAVSWASGARPCIPKSFGYSSVLCVCNATYCDSFDPPTFPALGTFSRYES
MEFSSPSREECPKPLSRVSIMAGSLTGLLLLQAVSWASGARPCIPKSFGYSSVVCVCNATYCDSFDPPTFPALGTFSRYES

TRSGRRMELSMGPIQANHTGTGLLLTLQPEQKFQKVKGFGGAMTDAAALNILALSPPAQNLLLKSYFSEEGIGYNIIRVPM
IRSE!WMELSMGPIQANHTGTGLPLTLQPE!!FQKANGFGGATTDAATLNILALSPPAQNLLRKLYVSKEEIGYDITWAST
TRSGRQMELSMGPIQANHTGTGLLLTLQPEQKFQKVKGFGGAMTDAAALNILALSPPAQNLLLKSYFSEEGIGYNISQVLV
TRSGRRMELSMGPIQANHTGTGLLLTLQPEQKFQKVKGFGGAMTDAAALNILALSPPAQNLLLKSYFSEEGIGYNIIRVPM

ASCDFSIRTYTYADTPDDFQLHNFSLPEEDTKLKIPLIHRALQLAQRPVSLLASPWTSPTWLKTNGAVNGKGSLKGQPGDI
ASCVFSICTYI!EDTPHDFQLHNFSLPEADTKLNITLNP!ALQLA!PPV!FLDSS!PSTTRFKTSVTENGKEPFTGQPRDI
ASCDFSILTYPYADTPDDFQLHNFSLPEEDTKLQILLSHRALQLAQCPVSPLASPWTSLTWLKTKGEGNGKWSPEGQPEDI
ASCDFSIRTYTYADTPDDFQLHNFSLPEEDTKLKIPLIHRALQLAQRPVSLLASPWTSPTWLKTNGAVNGKGSLKGQPGDI

YHQTWARYFVKFLDAYAEHKLQFWAVTAENEPSAGLLSGYPFQCLGFTPEHQRDFIARDLGPTLANSTHHNVRLLMLDDQR
CHQTRVRHIVKVLDACAEHKLQFWAVRADNEPPAVLLSVHHFQCLGLTPEQQQDLTARDLDRTLANNTHHNVRLPMLDDQC
YHQTWARYCVKYLDAYAEHKLQFWAVTA!NEPSAGLLSGYPFQCLGFTPEHQ!DFIARDLGLTLANSTHHNVRLLMLDDQH
YHQTWARYFVKFLDAYAEHKLQFWAVTAENEPSAGLLSGYPFQCLGFTPEHQRDFIARDLGATLANSTHHNVRLLMLDDQR

LLLPHWAKVVLTDPEAAKYVHGIAVHWYLDFLAPAKATLGETHRLFPNTMLFASEACVGSKFWEQSVRLGSWDRGMQYSHS
LLLLHWAKVVLTDPEAAICLHGIVVRCHLHFLDAAKAIQRKTHCLSPNTMPFASETRVGSKFGK!SLGLDF!DQGIQCNHN
LLLPHWAKVVLTDPEAAK!VHGIAVHRYLDFLAPAKATPWETHRLFPNTMLFASEAGVGSKFWEQSVWLGSWD!GMQYTHT
LLLPHWAKVVLTDPEAAKYVHGIAVHWYLDFLAPAKATLGETHRLFPNTMLFASEAYVGSKFWEQSVRLGSWDRGMQYRHG

IITNLLYHVVGWTDWNLALNPEGGPNWVRNFVDSPIIVDITKDTFYKQPMFYHLGHFSKFIPEGSQRVGLVASQKNDLDAV
IIMSVLYHLVSGTN!KRAPNL!ERLILLPTSINSLTIVDITKGTIHQ!RVVCHLDHFSEFIPEGSQSVGLVASQKNDPDPV
IITKLLYHVVG!THWNLALNPEGGPNRVCNFLYSPFIVDITKVTFYKRPMFYHLGHFSKFIPEGSQGVGLVASQKNDRDAV
IITNLLYHVVGWTAWNLALNPEGGPNWVRNFFDSPIIVDITKHTFYKQPMFYHLGHFSKFIPEGSQRVGLVASQKNDLDAV

ALMHPDGSAVVVVLNRSSKDVPLTIKDPAVGFLETISPGYSIHTYLWRRQ
ALMRPDGSPVVVMPSCSSKDVPLTIKYPAVSFPETISPGYPTHIYLWRHR
ALMHPDGSAVVVVLKHSSKDVPLTIKDPAVGFLETISPGYSIHTYLWRCQ
ALMHPDGSAVVVVLNPSSKDVPLTIKDPAVGFLETISPGYSIHTYLWRRQ

The first row shows the original sequence, the second, third and fourth line show mutated residues. Positions for possible missense/nonsense mutations are marked red. A "!" stands for a termination codon.