Glucocerebrosidase mapping snps

HGMD

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)

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