Difference between revisions of "Glucocerebrosidase mapping snps"
From Bioinformatikpedia
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(→Sequence) |
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>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/> |
||
MEFSSPSREECP<span style="background:#ff0000">K</span>PLSRVSIMAGSLTGLLLLQAVS<span style="background:#ff0000">W</span>ASGARPCIPKSF<span style="background:#ff0000">G</span>Y<span style="background:#ff0000">S</span>SV<span style="background:#ff0000"><span style="background:#ff0000">V</span></span><span style="background:#ff0000">C</span>VCNATYC<span style="background:#ff0000">D</span>SFDPPTFPAL<span style="background:#ff0000">G</span>T<span style="background:#ff0000">F</span>SRY<span style="background:#ff0000">E</span><span style="background:#ff0000">S</span><br/> |
MEFSSPSREECP<span style="background:#ff0000">K</span>PLSRVSIMAGSLTGLLLLQAVS<span style="background:#ff0000">W</span>ASGARPCIPKSF<span style="background:#ff0000">G</span>Y<span style="background:#ff0000">S</span>SV<span style="background:#ff0000"><span style="background:#ff0000">V</span></span><span style="background:#ff0000">C</span>VCNATYC<span style="background:#ff0000">D</span>SFDPPTFPAL<span style="background:#ff0000">G</span>T<span style="background:#ff0000">F</span>SRY<span style="background:#ff0000">E</span><span style="background:#ff0000">S</span><br/> |
||
− | <span style="background:#ff0000">T</span>RS<span style="background:#ff0000">G</span><span style="background:#ff0000">R</span><span style="background:#ff0000"><span style="background:#ff0000">R</span></span>MELSMGPIQANHTGTGL<span style="background:#ff0000">L</span>LTLQPE<span style="background:#ff0000">Q</span><span style="background:#ff0000">K</span>FQK<span style="background:#ff0000">V</span><span style="background:#ff0000">K</span>GFGGA<span style="background:#ff0000">M</span>TDAA<span style="background:#ff0000">A</span>LNILALSPPAQNLL<span style="background:#ff0000">L</span>K<span style="background:#ff0000">S</span>Y<span style="background:#ff0000">F</span>S<span style="background:#ff0000">E</span>E<span style="background:#ff0000">G</span>IGY<span style="background:#ff0000">N</span>I<span style="background:#ff0000"><span style="background:#ff0000">I</span></span><span style="background:#ff0000"><span style="background:#ff0000">R</span></span><span style="background:#ff0000">V</span><span style="background:#ff0000"><span style="background:#ff0000">P</span></span><br/> |
+ | <span style="background:#ff0000">T</span>RS<span style="background:#ff0000">G</span><span style="background:#ff0000">R</span><span style="background:#ff0000"><span style="background:#ff0000">R</span></span>MELSMGPIQANHTGTGL<span style="background:#ff0000">L</span>LTLQPE<span style="background:#ff0000">Q</span><span style="background:#ff0000">K</span>FQK<span style="background:#ff0000">V</span><span style="background:#ff0000">K</span>GFGGA<span style="background:#ff0000">M</span>TDAA<span style="background:#ff0000">A</span>LNILALSPPAQNLL<span style="background:#ff0000">L</span>K<span style="background:#ff0000">S</span>Y<span style="background:#ff0000">F</span>S<span style="background:#ff0000">E</span>E<span style="background:#ff0000">G</span>IGY<span style="background:#ff0000">N</span>I<span style="background:#ff0000"><span style="background:#ff0000">I</span></span><span style="background:#ff0000"><span style="background:#ff0000">R</span></span><span style="background:#ff0000">V</span><span style="background:#ff0000"><span style="background:#ff0000">P</span></span><span style="background:#ff0000"><span style="background:#ff0000">M</span></span><br/> |
− | + | ASC<span style="background:#ff0000">D</span>FSI<span style="background:#ff0000"><span style="background:#ff0000">R</span></span>TY<span style="background:#ff0000"><span style="background:#ff0000">T</span></span><span style="background:#ff0000">Y</span><span style="background:#ff0000">A</span>DTP<span style="background:#ff0000">D</span>DFQLHNFSLPE<span style="background:#ff0000">E</span>DTKL<span style="background:#ff0000"><span style="background:#ff0000">K</span></span>I<span style="background:#ff0000"><span style="background:#ff0000">P</span></span>L<span style="background:#ff0000"><span style="background:#ff0000">I</span></span><span style="background:#ff0000">H</span><span style="background:#ff0000">R</span>ALQLA<span style="background:#ff0000">Q</span><span style="background:#ff0000"><span style="background:#ff0000">R</span></span>PV<span style="background:#ff0000">S</span><span style="background:#ff0000"><span style="background:#ff0000">L</span></span>L<span style="background:#ff0000">A</span>S<span style="background:#ff0000">P</span><span style="background:#ff0000">W</span><span style="background:#ff0000">T</span>S<span style="background:#ff0000"><span style="background:#ff0000">P</span></span>T<span style="background:#ff0000">W</span><span style="background:#ff0000">L</span>KT<span style="background:#ff0000"><span style="background:#ff0000">N</span></span><span style="background:#ff0000">G</span><span style="background:#ff0000"><span style="background:#ff0000">A</span></span><span style="background:#ff0000"><span style="background:#ff0000">V</span></span>NGK<span style="background:#ff0000"><span style="background:#ff0000">G</span></span><span style="background:#ff0000">S</span><span style="background:#ff0000"><span style="background:#ff0000">L</span></span><span style="background:#ff0000"><span style="background:#ff0000">K</span></span>GQP<span style="background:#ff0000"><span style="background:#ff0000">G</span></span>DI<br/> |
|
− | + | <span style="background:#ff0000">Y</span>HQT<span style="background:#ff0000">W</span><span style="background:#ff0000">A</span>R<span style="background:#ff0000">Y</span><span style="background:#ff0000"><span style="background:#ff0000">F</span></span>VK<span style="background:#ff0000"><span style="background:#ff0000">F</span></span>LDA<span style="background:#ff0000">Y</span>AEHKLQFWAV<span style="background:#ff0000">T</span>A<span style="background:#ff0000"><span style="background:#ff0000">E</span></span>NEP<span style="background:#ff0000">S</span>A<span style="background:#ff0000">G</span>LLS<span style="background:#ff0000">G</span><span style="background:#ff0000">Y</span><span style="background:#ff0000">P</span>FQCLG<span style="background:#ff0000">F</span>TPE<span style="background:#ff0000">H</span>Q<span style="background:#ff0000"><span style="background:#ff0000">R</span></span>D<span style="background:#ff0000">F</span><span style="background:#ff0000">I</span>ARDL<span style="background:#ff0000">G</span><span style="background:#ff0000"><span style="background:#ff0000"><span style="background:#ff0000">P</span></span></span>TLAN<span style="background:#ff0000">S</span>THHNVRL<span style="background:#ff0000">L</span>MLDDQ<span style="background:#ff0000"><span style="background:#ff0000">R</span></span><br/> |
|
− | + | LLL<span style="background:#ff0000">P</span>HWAKVV<span style="background:#ff0000">L</span>TDPEAA<span style="background:#ff0000">K</span><span style="background:#ff0000"><span style="background:#ff0000">Y</span></span><span style="background:#ff0000">V</span>HGI<span style="background:#ff0000">A</span>V<span style="background:#ff0000">H</span><span style="background:#ff0000"><span style="background:#ff0000">W</span></span><span style="background:#ff0000">Y</span>L<span style="background:#ff0000">D</span>FL<span style="background:#ff0000">A</span><span style="background:#ff0000">P</span>AKA<span style="background:#ff0000">T</span><span style="background:#ff0000"><span style="background:#ff0000">L</span></span><span style="background:#ff0000"><span style="background:#ff0000">G</span></span><span style="background:#ff0000">E</span>TH<span style="background:#ff0000">R</span>L<span style="background:#ff0000">F</span>PNTM<span style="background:#ff0000">L</span>FASE<span style="background:#ff0000">A</span><span style="background:#ff0000"><span style="background:#ff0000"><span style="background:#ff0000">C</span></span></span>VGSKF<span style="background:#ff0000">W</span><span style="background:#ff0000">E</span><span style="background:#ff0000">Q</span>S<span style="background:#ff0000">V</span><span style="background:#ff0000"><span style="background:#ff0000">R</span></span>L<span style="background:#ff0000">G</span><span style="background:#ff0000">S</span><span style="background:#ff0000">W</span>D<span style="background:#ff0000"><span style="background:#ff0000">R</span></span>G<span style="background:#ff0000">M</span>Q<span style="background:#ff0000">Y</span><span style="background:#ff0000"><span style="background:#ff0000"><span style="background:#ff0000">S</span></span></span>H<span style="background:#ff0000"><span style="background:#ff0000"><span style="background:#ff0000">S</span></span></span><br/> |
|
− | + | II<span style="background:#ff0000">T</span><span style="background:#ff0000"><span style="background:#ff0000">N</span></span><span style="background:#ff0000">L</span>LYH<span style="background:#ff0000">V</span>V<span style="background:#ff0000">G</span><span style="background:#ff0000"><span style="background:#ff0000">W</span></span>T<span style="background:#ff0000"><span style="background:#ff0000"><span style="background:#ff0000">D</span></span></span><span style="background:#ff0000">W</span><span style="background:#ff0000">N</span><span style="background:#ff0000">L</span>A<span style="background:#ff0000">L</span>N<span style="background:#ff0000">P</span><span style="background:#ff0000">E</span><span style="background:#ff0000">G</span><span style="background:#ff0000">G</span><span style="background:#ff0000">P</span><span style="background:#ff0000">N</span><span style="background:#ff0000"><span style="background:#ff0000">W</span></span><span style="background:#ff0000">V</span><span style="background:#ff0000"><span style="background:#ff0000">R</span></span><span style="background:#ff0000">N</span><span style="background:#ff0000">F</span><span style="background:#ff0000"><span style="background:#ff0000"><span style="background:#ff0000">V</span></span></span><span style="background:#ff0000"><span style="background:#ff0000">D</span></span>S<span style="background:#ff0000">P</span><span style="background:#ff0000"><span style="background:#ff0000">I</span></span>IVDITK<span style="background:#ff0000"><span style="background:#ff0000"><span style="background:#ff0000">D</span></span></span>T<span style="background:#ff0000">F</span><span style="background:#ff0000">Y</span><span style="background:#ff0000">K</span><span style="background:#ff0000"><span style="background:#ff0000">Q</span></span><span style="background:#ff0000">P</span><span style="background:#ff0000">M</span><span style="background:#ff0000">F</span><span style="background:#ff0000">Y</span>HL<span style="background:#ff0000">G</span>HFS<span style="background:#ff0000">K</span>FIPEGSQ<span style="background:#ff0000"><span style="background:#ff0000">R</span></span>VGLVASQKND<span style="background:#ff0000"><span style="background:#ff0000">L</span></span>D<span style="background:#ff0000">A</span>V<br/> |
|
− | + | ALM<span style="background:#ff0000">H</span>PDGS<span style="background:#ff0000">A</span>VVV<span style="background:#ff0000">V</span><span style="background:#ff0000">L</span><span style="background:#ff0000"><span style="background:#ff0000">N</span></span><span style="background:#ff0000"><span style="background:#ff0000"><span style="background:#ff0000">R</span></span></span>SSKDVPLTIK<span style="background:#ff0000">D</span>PAV<span style="background:#ff0000">G</span>F<span style="background:#ff0000">L</span>ETISPGY<span style="background:#ff0000">S</span><span style="background:#ff0000">I</span>H<span style="background:#ff0000">T</span>YLWR<span style="background:#ff0000"><span style="background:#ff0000">R</span></span><span style="background:#ff0000">Q</span> |
|
</code> |
</code> |
||
Revision as of 19:09, 16 June 2011
Contents
General
HGMD
Overview mutations
Mutation type | explanation | Number of mutations |
---|---|---|
Missense/nonsense | codon codes for a different amino acid/premature stop codon | 236 |
Splicing | mutation causes splicing | 13 |
Regulatory | mutation affecting the regulation of gene expression | 0 |
Small deletions | deleted amino acids | 23 |
Small insertions | inserted amino acids | 13 |
Small indels | insertion or deletion (maybe not recognizable) | 2 |
Gross deletions | big deletions | 3 |
Gross insertions/duplications | big insertions or duplicated sequences | 0 |
Complex rearrangements | part of the sequence is placed somewhere else | 13 |
Repeat variations | repeated varied parts of the sequence are placed somewhere else | 0 |
Public total (HGMD Professional 2011.1 total) | 303 (353) |
Missense/nonsense mutations given for GBA
There are given 236 missense/nonsense mutations for GBA:
Codon change | Amino acid change | Codon number |
---|---|---|
AAG-AGG | Lys-Arg | -27 |
TGGg-TGA | Trp-Term | -4 |
cGGC-AGC | Gly-Ser | 10 |
AGC-ATC | Ser-Ile | 12 |
gGTG-ATG | Val-Met | 15 |
gGTG-CTG | Val-Leu | 15 |
TGT-TCT | Cys-Ser | 16 |
tGAC-AAC | Asp-Asn | 24 |
tGGT-AGT | Gly-Ser | 35 |
cTTC-GTC | Phe-Val | 37 |
tGAG-AAG | Glu-Lys | 41 |
AGT-AAT | Ser-Asn | 42 |
ACA-ATA | Thr-Ile | 43 |
GGG-GAG | Gly-Glu | 46 |
gCGA-TGA | Arg-Term | 47 |
aCGG-TGG | Arg-Trp | 48 |
CGG-CAG | Arg-Gln | 48 |
CTA-CCA | Leu-Pro | 66 |
aCAG-TAG | Gln-Term | 73 |
gAAG-TAG | Lys-Term | 74 |
GTG-GCG | Val-Ala | 78 |
AAGg-AAC | Lys-Asn | 79 |
ATG-ACG | Met-Thr | 85 |
tGCT-ACT | Ala-Thr | 90 |
CTT-CGT | Leu-Arg | 105 |
TCG-TTG | Ser-Leu | 107 |
cTTC-GTC | Phe-Val | 109 |
tGAA-AAA | Glu-Lys | 111 |
GGA-GAA | Gly-Glu | 113 |
tAAC-GAC | Asn-Asp | 117 |
ATC-ACC | Ile-Thr | 119 |
ATC-AGC | Ile-Ser | 119 |
cCGG-TGG | Arg-Trp | 120 |
CGG-CAG | Arg-Gln | 120 |
GTA-GCA | Val-Ala | 121 |
aCCC-TCC | Pro-Ser | 122 |
CCC-CTC | Pro-Leu | 122 |
ATG-ACG | Met-Thr | 123 |
cATG-GTG | Met-Val | 123 |
GAC-GTC | Asp-Val | 127 |
cCGC-TGC | Arg-Cys | 131 |
CGC-CTC | Arg-Leu | 131 |
ACC-ATC | Thr-Ile | 134 |
cACC-CCC | Thr-Pro | 134 |
TATg-TAG | Tyr-Term | 135 |
GCA-GAA | Ala-Glu | 136 |
tGAT-CAT | Asp-His | 140 |
GAA-GCA | Glu-Ala | 152 |
AAGa-AAT | Lys-Asn | 157 |
cAAG-CAG | Lys-Gln | 157 |
aCCC-ACC | Pro-Thr | 159 |
CCC-CTC | Pro-Leu | 159 |
ATT-AAT | Ile-Asn | 161 |
ATT-AGT | Ile-Ser | 161 |
CAC-CCC | His-Pro | 162 |
cCGA-TGA | Arg-Term | 163 |
cCAG-TAG | Gln-Term | 169 |
CGT-CCT | Arg-Pro | 170 |
gCGT-TGT | Arg-Cys | 170 |
TCA-TGA | Ser-Term | 173 |
aCTC-TTC | Leu-Phe | 174 |
CTC-CCC | Leu-Pro | 174 |
GCC-GAC | Ala-Asp | 176 |
cCCC-TCC | Pro-Ser | 178 |
TGG-TAG | Trp-Term | 179 |
gACA-CCA | Thr-Pro | 180 |
aCCC-ACC | Pro-Thr | 182 |
CCC-CTC | Pro-Leu | 182 |
tTGG-CGG | Trp-Arg | 184 |
gCTC-TTC | Leu-Phe | 185 |
AAT-AGT | Asn-Ser | 188 |
AATg-AAG | Asn-Lys | 188 |
GGA-GTA | Gly-Val | 189 |
aGCG-ACG | Ala-Thr | 190 |
GCG-GAG | Ala-Glu | 190 |
GTG-GAG | Val-Glu | 191 |
GTG-GGG | Val-Gly | 191 |
GGG-GAG | Gly-Glu | 195 |
gGGG-TGG | Gly-Trp | 195 |
gTCA-CCA | Ser-Pro | 196 |
aCTC-TTC | Leu-Phe | 197 |
CTC-CCC | Leu-Pro | 197 |
AAG-ACG | Lys-Thr | 198 |
cAAG-GAG | Lys-Glu | 198 |
cGGA-AGA | Gly-Arg | 202 |
GGA-GAA | Gly-Glu | 202 |
TAC-TGC | Tyr-Cys | 205 |
cTGG-CGG | Trp-Arg | 209 |
GCC-GTC | Ala-Val | 210 |
aTAC-CAC | Tyr-His | 212 |
cTTT-ATT | Phe-Ile | 213 |
TTT-TGT | Phe-Cys | 213 |
gTTC-GTC | Phe-Val | 216 |
TTC-TAC | Phe-Tyr | 216 |
TAT-TGT | Tyr-Cys | 220 |
ACA-AGA | Thr-Arg | 231 |
GAAa-GAC | Glu-Asp | 233 |
tGAA-TAA | Glu-Term | 233 |
tTCT-CCT | Ser-Pro | 237 |
GGG-GTG | Gly-Val | 239 |
GGA-GTA | Gly-Val | 243 |
aTAC-CAC | Tyr-His | 244 |
CCC-CAC | Pro-His | 245 |
TTCa-TTA | Phe-Leu | 251 |
CATc-CAG | His-Gln | 255 |
CGA-CAA | Arg-Gln | 257 |
gCGA-TGA | Arg-Term | 257 |
TTCa-TTA | Phe-Leu | 259 |
ATT-ACT | Ile-Thr | 260 |
GGT-GAT | Gly-Asp | 265 |
CCT-CGT | Pro-Arg | 266 |
CCT-CTT | Pro-Leu | 266 |
tCCT-GCT | Pro-Ala | 266 |
AGT-AAT | Ser-Asn | 271 |
CTC-CCC | Leu-Pro | 279 |
aCGC-TGC | Arg-Cys | 285 |
CGC-CAC | Arg-His | 285 |
CCC-CTC | Pro-Leu | 289 |
aCTG-TTG | Leu-Leu | 296 |
AAA-ATA | Lys-Ile | 303 |
TAT-TGT | Tyr-Cys | 304 |
TATg-TAG | Tyr-Term | 304 |
tGTT-CTT | Val-Leu | 305 |
GCT-GTT | Ala-Val | 309 |
CAT-CGT | His-Arg | 311 |
TGGt-TGT | Trp-Cys | 312 |
tTGG-CGG | Trp-Arg | 312 |
gTAC-CAC | Tyr-His | 313 |
gGAC-CAC | Asp-His | 315 |
GCT-GAT | Ala-Asp | 318 |
tCCA-GCA | Pro-Ala | 319 |
ACC-ATC | Thr-Ile | 323 |
CTA-CAA | Leu-Gln | 324 |
CTA-CCA | Leu-Pro | 324 |
aGGG-AGG | Gly-Arg | 325 |
aGGG-TGG | Gly-Trp | 325 |
gGAG-AAG | Glu-Lys | 326 |
cCGC-TGC | Arg-Cys | 329 |
TTC-TCC | Phe-Ser | 331 |
CTC-CCC | Leu-Pro | 336 |
gGCC-ACC | Ala-Thr | 341 |
cTGT-CGT | Cys-Arg | 342 |
cTGT-GGT | Cys-Gly | 342 |
TGT-TAT | Cys-Tyr | 342 |
cTGG-GGG | Trp-Gly | 348 |
gGAG-AAG | Glu-Lys | 349 |
gCAG-TAG | Gln-Term | 350 |
tGTG-CTG | Val-Leu | 352 |
gCGG-GGG | Arg-Gly | 353 |
gCGG-TGG | Arg-Trp | 353 |
GGC-GAC | Gly-Asp | 355 |
TCC-TTC | Ser-Phe | 356 |
TGG-TAG | Trp-Term | 357 |
CGA-CAA | Arg-Gln | 359 |
tCGA-TGA | Arg-Term | 359 |
ATGc-ATA | Met-Ile | 361 |
TAC-TGC | Tyr-Cys | 363 |
AGC-AAC | Ser-Asn | 364 |
AGC-ACC | Ser-Thr | 364 |
cAGC-CGC | Ser-Arg | 364 |
AGC-AAC | Ser-Asn | 366 |
AGC-ACC | Ser-Thr | 366 |
cAGC-GGC | Ser-Gly | 366 |
ACG-ATG | Thr-Met | 369 |
AAC-AGC | Asn-Ser | 370 |
AACc-AAA | Asn-Lys | 370 |
cCTC-GTC | Leu-Val | 371 |
tGTG-TTG | Val-Leu | 375 |
cGGC-AGC | Gly-Ser | 377 |
cTGG-GGG | Trp-Gly | 378 |
TGG-TAG | Trp-Term | 378 |
cGAC-AAC | Asp-Asn | 380 |
cGAC-CAC | Asp-His | 380 |
GAC-GCC | Asp-Ala | 380 |
TGG-TAG | Trp-Term | 381 |
AACc-AAA | Asn-Lys | 382 |
CTT-CGT | Leu-Arg | 383 |
CTG-CCG | Leu-Pro | 385 |
CCC-CTC | Pro-Leu | 387 |
cGAA-TAA | Glu-Term | 388 |
GGA-GAA | Gly-Glu | 389 |
aGGA-AGA | Gly-Arg | 390 |
CCC-CTC | Pro-Leu | 391 |
AAT-ATT | Asn-Ile | 392 |
TGG-TTG | Trp-Leu | 393 |
tTGG-AGG | Trp-Arg | 393 |
gGTG-TTG | Val-Leu | 394 |
CGT-CCT | Arg-Pro | 395 |
gCGT-TGT | Arg-Cys | 395 |
AAC-ACC | Asn-Thr | 396 |
TTT-TCT | Phe-Ser | 397 |
tGTC-ATC | Val-Ile | 398 |
tGTC-CTC | Val-Leu | 398 |
tGTC-TTC | Val-Phe | 398 |
cGAC-AAC | Asp-Asn | 399 |
cGAC-TAC | Asp-Tyr | 399 |
CCC-CTC | Pro-Leu | 401 |
ATC-ACC | Ile-Thr | 402 |
cATC-TTC | Ile-Phe | 402 |
GAC-GGC | Asp-Gly | 409 |
GAC-GTC | Asp-Val | 409 |
gGAC-CAC | Asp-His | 409 |
gTTT-ATT | Phe-Ile | 411 |
tTAC-CAC | Tyr-His | 412 |
cAAA-CAA | Lys-Gln | 413 |
aCAG-TAG | Gln-Term | 414 |
CAG-CGG | Gln-Arg | 414 |
CCC-CGC | Pro-Arg | 415 |
cATG-GTG | Met-Val | 416 |
gTTC-GTC | Phe-Val | 417 |
TAC-TGC | Tyr-Cys | 418 |
GGC-GAC | Gly-Asp | 421 |
cAAG-GAG | Lys-Glu | 425 |
AGAg-AGT | Arg-Ser | 433 |
gAGA-GGA | Arg-Gly | 433 |
CTG-CCG | Leu-Pro | 444 |
CTG-CGG | Leu-Arg | 444 |
cGCA-CCA | Ala-Pro | 446 |
CAT-CGT | His-Arg | 451 |
tGCT-CCT | Ala-Pro | 456 |
cGTG-ATG | Val-Met | 460 |
CTA-CCA | Leu-Pro | 461 |
AAC-AGC | Asn-Ser | 462 |
AACc-AAG | Asn-Lys | 462 |
cCGC-TGC | Arg-Cys | 463 |
CGC-CAC | Arg-His | 463 |
CGC-CCC | Arg-Pro | 463 |
gGAT-TAT | Asp-Tyr | 474 |
gGGC-AGC | Gly-Ser | 478 |
CTG-CCG | Leu-Pro | 480 |
cTCC-CCC | Ser-Pro | 488 |
ATT-ACT | Ile-Thr | 489 |
ACC-ATC | Thr-Ile | 491 |
CGC-CAC | Arg-His | 496 |
tCGC-TGC | Arg-Cys | 496 |
CAG-CGG | Gln-Arg | 497 |
Sequence
>sp|P04062|GLCM_HUMAN Glucosylceramidase OS=Homo sapiens GN=GBA PE=1 SV=3
MEFSSPSREECPKPLSRVSIMAGSLTGLLLLQAVSWASGARPCIPKSFGYSSVVCVCNATYCDSFDPPTFPALGTFSRYES
TRSGRRMELSMGPIQANHTGTGLLLTLQPEQKFQKVKGFGGAMTDAAALNILALSPPAQNLLLKSYFSEEGIGYNIIRVPM
ASCDFSIRTYTYADTPDDFQLHNFSLPEEDTKLKIPLIHRALQLAQRPVSLLASPWTSPTWLKTNGAVNGKGSLKGQPGDI
YHQTWARYFVKFLDAYAEHKLQFWAVTAENEPSAGLLSGYPFQCLGFTPEHQRDFIARDLGPTLANSTHHNVRLLMLDDQR
LLLPHWAKVVLTDPEAAKYVHGIAVHWYLDFLAPAKATLGETHRLFPNTMLFASEACVGSKFWEQSVRLGSWDRGMQYSHS
IITNLLYHVVGWTDWNLALNPEGGPNWVRNFVDSPIIVDITKDTFYKQPMFYHLGHFSKFIPEGSQRVGLVASQKNDLDAV
ALMHPDGSAVVVVLNRSSKDVPLTIKDPAVGFLETISPGYSIHTYLWRRQ
Possible missense/nonsense mutations are marked with red.