Gaucher hgmd mutations

Missense/nonsense mutations of GBA annotated in HGMD

Codon number	Codon change	Amino acid change	Phenotype
13	AAG-AGG	Lys-Arg	Gaucher disease ?
36	TGGg-TGA	Trp-Term	Gaucher disease 1
49	cGGC-AGC	Gly-Ser	Gaucher disease
51	AGC-ATC	Ser-Ile	Gaucher disease
54	gGTG-ATG	Val-Met	Gaucher disease
54	gGTG-CTG	Val-Leu	Gaucher disease
55	TGT-TCT	Cys-Ser	Gaucher disease
63	tGAC-AAC	Asp-Asn	Gaucher disease 1
74	tGGT-AGT	Gly-Ser	Gaucher disease ?
76	cTTC-GTC	Phe-Val	Gaucher disease 1
80	tGAG-AAG	Glu-Lys	Gaucher disease 2
81	AGT-AAT	Ser-Asn	Gaucher disease
82	ACA-ATA	Thr-Ile	Gaucher disease
85	GGG-GAG	Gly-Glu	Gaucher disease
86	gCGA-TGA	Arg-Term	Gaucher disease
87	aCGG-TGG	Arg-Trp	Gaucher disease
87	CGG-CAG	Arg-Gln	Gaucher disease
105	CTA-CCA	Leu-Pro	Gaucher disease
112	aCAG-TAG	Gln-Term	Gaucher disease
113	gAAG-TAG	Lys-Term	Gaucher disease
117	GTG-GCG	Val-Ala	Gaucher disease
118	AAGg-AAC	Lys-Asn	Gaucher disease
124	ATG-ACG	Met-Thr	Gaucher disease
129	tGCT-ACT	Ala-Thr	Gaucher disease 1
144	CTT-CGT	Leu-Arg	Gaucher disease 1
146	TCG-TTG	Ser-Leu	Gaucher disease
147	TAC-TGC	Tyr-Cys	Gaucher disease
148	cTTC-GTC	Phe-Val	Gaucher disease 1
150	tGAA-AAA	Glu-Lys	Gaucher disease ?
152	GGA-GAA	Gly-Glu	Gaucher disease 1
156	tAAC-GAC	Asn-Asp	Gaucher disease 1
158	ATC-ACC	Ile-Thr	Gaucher disease
158	ATC-AGC	Ile-Ser	Gaucher disease 1
159	cCGG-TGG	Arg-Trp	Gaucher disease
159	CGG-CAG	Arg-Gln	Gaucher disease 1
160	GTA-GCA	Val-Ala	Gaucher disease ?
161	aCCC-TCC	Pro-Ser	Gaucher disease
161	CCC-CTC	Pro-Leu	Gaucher disease 2
162	ATG-ACG	Met-Thr	Gaucher disease
162	cATG-GTG	Met-Val	Gaucher disease
166	GAC-GTC	Asp-Val	Gaucher disease
170	cCGC-AGC	Arg-Ser	Parkinson disease
170	cCGC-TGC	Arg-Cys	Gaucher disease 2
170	CGC-CTC	Arg-Leu	Gaucher disease 2
173	ACC-ATC	Thr-Ile	Gaucher disease 1
173	cACC-CCC	Thr-Pro	Gaucher disease 1
174	TATg-TAG	Tyr-Term	Gaucher disease 1
175	GCA-GAA	Ala-Glu	Gaucher disease
179	tGAT-CAT	Asp-His	Gaucher disease 1
191	GAA-GCA	Glu-Ala	Gaucher disease
196	AAGa-AAT	Lys-Asn	Gaucher disease ?
196	cAAG-CAG	Lys-Gln	Gaucher disease 2
198	aCCC-ACC	Pro-Thr	Gaucher disease
198	CCC-CTC	Pro-Leu	Gaucher disease
200	ATT-AAT	Ile-Asn	Lewy body dementia/Alzheimer disease
200	ATT-AGT	Ile-Ser	Gaucher disease
201	CAC-CCC	His-Pro	Gaucher disease 1
202	cCGA-TGA	Arg-Term	Gaucher disease
202	CGA-CAA	Arg-Gln	Parkinson disease
208	cCAG-TAG	Gln-Term	Gaucher disease 1
209	CGT-CCT	Arg-Pro	Gaucher disease
209	gCGT-TGT	Arg-Cys	Gaucher disease 1
212	TCA-TGA	Ser-Term	Gaucher disease
213	aCTC-TTC	Leu-Phe	Gaucher disease ?
213	CTC-CCC	Leu-Pro	Parkinson disease ?
215	GCC-GAC	Ala-Asp	Gaucher disease
217	cCCC-TCC	Pro-Ser	Gaucher disease
218	TGG-TAG	Trp-Term	Gaucher disease
219	gACA-CCA	Thr-Pro	Gaucher disease
221	aCCC-ACC	Pro-Thr	Gaucher disease
221	CCC-CTC	Pro-Leu	Gaucher disease 2
223	tTGG-CGG	Trp-Arg	Gaucher disease 2
224	gCTC-TTC	Leu-Phe	Gaucher disease ?
227	AAT-AGT	Asn-Ser	Gaucher disease
227	AATg-AAG	Asn-Lys	Gaucher disease
228	GGA-GTA	Gly-Val	Gaucher disease
229	aGCG-ACG	Ala-Thr	Gaucher disease 3
229	GCG-GAG	Ala-Glu	Gaucher disease 2
230	GTG-GAG	Val-Glu	Gaucher disease 1
230	GTG-GGG	Val-Gly	Gaucher disease
234	GGG-GAG	Gly-Glu	Gaucher disease
234	gGGG-TGG	Gly-Trp	Gaucher disease
235	gTCA-CCA	Ser-Pro	Gaucher disease
236	aCTC-TTC	Leu-Phe	Gaucher disease
236	CTC-CCC	Leu-Pro	Gaucher disease ?
237	AAG-ACG	Lys-Thr	Parkinson disease
237	cAAG-GAG	Lys-Glu	Gaucher disease 2
241	cGGA-AGA	Gly-Arg	Gaucher disease
241	GGA-GAA	Gly-Glu	Gaucher disease
244	TAC-TGC	Tyr-Cys	Gaucher disease 1
248	cTGG-CGG	Trp-Arg	Gaucher disease
249	GCC-GTC	Ala-Val	Gaucher disease ?
251	aTAC-CAC	Tyr-His	Gaucher disease
252	cTTT-ATT	Phe-Ile	Gaucher disease 3
252	TTT-TGT	Phe-Cys	Gaucher disease
255	gTTC-GTC	Phe-Val	Gaucher disease
255	TTC-TAC	Phe-Tyr	Gaucher disease
259	TAT-TGT	Tyr-Cys	Gaucher disease ?
270	ACA-AGA	Thr-Arg	Gaucher disease
272	GAAa-GAC	Glu-Asp	Gaucher disease
272	tGAA-TAA	Glu-Term	Gaucher disease 2
275	gCCT-ACT	Pro-Thr	Gaucher disease
276	tTCT-CCT	Ser-Pro	Gaucher disease
278	GGG-GTG	Gly-Val	Gaucher disease
282	GGA-GTA	Gly-Val	Gaucher disease
283	aTAC-CAC	Tyr-His	Gaucher disease
284	CCC-CAC	Pro-His	Gaucher disease ?
288	CTG-CAG	Leu-Gln	Gaucher disease
290	TTCa-TTA	Phe-Leu	Gaucher disease 2
294	CATc-CAG	His-Gln	Gaucher disease 2
296	CGA-CAA	Arg-Gln	Gaucher disease
296	gCGA-TGA	Arg-Term	Gaucher disease 1
298	TTCa-TTA	Phe-Leu	Gaucher disease 2
299	ATT-ACT	Ile-Thr	Gaucher disease 2
301	CGT-CAT	Arg-His	Parkinson disease
304	GGT-GAT	Gly-Asp	Gaucher disease
305	CCT-CGT	Pro-Arg	Gaucher disease
305	CCT-CTT	Pro-Leu	Gaucher disease 2
305	tCCT-GCT	Pro-Ala	Gaucher disease
310	AGT-AAT	Ser-Asn	Gaucher disease
310	cAGT-GGT	Ser-Gly	Parkinson disease
318	CTC-CCC	Leu-Pro	Gaucher disease
324	aCGC-TGC	Arg-Cys	Gaucher disease
324	CGC-CAC	Arg-His	Gaucher disease 2
327	CTG-CCG	Leu-Pro	Gaucher disease
328	CCC-CTC	Pro-Leu	Gaucher disease
335	aCTG-GTG	Leu-Val	Gaucher disease 1
335	aCTG-TTG	Leu-Leu	Gaucher disease 1 ?
342	AAA-ATA	Lys-Ile	Gaucher disease
343	TAT-TGT	Tyr-Cys	Gaucher disease 2
343	TATg-TAG	Tyr-Term	Gaucher disease 3
344	tGTT-CTT	Val-Leu	Gaucher disease ?
348	GCT-GTT	Ala-Val	Gaucher disease 1
350	CAT-CGT	His-Arg	Gaucher disease 2
351	TGGt-TGT	Trp-Cys	Gaucher disease 1
351	tTGG-CGG	Trp-Arg	Gaucher disease
352	gTAC-CAC	Tyr-His	Gaucher disease
354	gGAC-CAC	Asp-His	Gaucher disease
357	GCT-GAT	Ala-Asp	Gaucher disease
358	tCCA-GCA	Pro-Ala	Gaucher disease ?
358	tCCA-TCA	Pro-Ser	Gaucher disease
362	ACC-ATC	Thr-Ile	Gaucher disease
363	CTA-CAA	Leu-Gln	Gaucher disease 1
363	CTA-CCA	Leu-Pro	Gaucher disease
364	aGGG-AGG	Gly-Arg	Gaucher disease 2
364	aGGG-TGG	Gly-Trp	Gaucher disease
365	gGAG-AAG	Glu-Lys	Gaucher disease 1 ?
368	cCGC-TGC	Arg-Cys	Parkinson disease
370	TTC-TCC	Phe-Ser	Gaucher disease
375	CTC-CCC	Leu-Pro	Gaucher disease
380	gGCC-ACC	Ala-Thr	Gaucher disease
381	cTGT-CGT	Cys-Arg	Gaucher disease 1
381	cTGT-GGT	Cys-Gly	Gaucher disease 2
381	TGT-TAT	Cys-Tyr	Gaucher disease
387	cTGG-GGG	Trp-Gly	Gaucher disease
388	gGAG-AAG	Glu-Lys	Gaucher disease ?
389	gCAG-TAG	Gln-Term	Gaucher disease 1
391	tGTG-ATG	Val-Met	Gaucher disease
391	tGTG-CTG	Val-Leu	Gaucher disease
392	gCGG-GGG	Arg-Gly	Gaucher disease
392	gCGG-TGG	Arg-Trp	Gaucher disease ?
394	GGC-GAC	Gly-Asp	Gaucher disease
395	TCC-TTC	Ser-Phe	Gaucher disease 1
396	TGG-TAG	Trp-Term	Gaucher disease
398	CGA-CAA	Arg-Gln	Gaucher disease
398	tCGA-TGA	Arg-Term	Gaucher disease
400	ATGc-ATA	Met-Ile	Gaucher disease
402	TAC-TGC	Tyr-Cys	Gaucher disease 2
403	AGC-AAC	Ser-Asn	Gaucher disease
403	AGC-ACC	Ser-Thr	Gaucher disease 1
403	cAGC-CGC	Ser-Arg	Gaucher disease
405	AGC-AAC	Ser-Asn	Gaucher disease
405	AGC-ACC	Ser-Thr	Gaucher disease
405	cAGC-GGC	Ser-Gly	Gaucher disease
408	ACG-ATG	Thr-Met	Gaucher disease
409	AAC-AGC	Asn-Ser	Gaucher disease 1
409	AACc-AAA	Asn-Lys	Gaucher disease ?
410	cCTC-GTC	Leu-Val	Gaucher disease
414	tGTG-TTG	Val-Leu	Gaucher disease
416	cGGC-AGC	Gly-Ser	Gaucher disease
417	cTGG-GGG	Trp-Gly	Gaucher disease
417	TGG-TAG	Trp-Term	Gaucher disease
419	cGAC-AAC	Asp-Asn	Gaucher disease
419	cGAC-CAC	Asp-His	Gaucher disease
419	cGAC-TAC	Asp-Tyr	Gaucher disease
419	GAC-GCC	Asp-Ala	Gaucher disease
420	TGG-TAG	Trp-Term	Gaucher disease
421	AACc-AAA	Asn-Lys	Gaucher disease 2
422	CTT-CGT	Leu-Arg	Gaucher disease 2
423	GCC-GAC	Ala-Asp	Gaucher disease
424	CTG-CCG	Leu-Pro	Gaucher disease 2
426	CCC-CTC	Pro-Leu	Gaucher disease
427	cGAA-TAA	Glu-Term	Gaucher disease
428	GGA-GAA	Gly-Glu	Gaucher disease 2
429	aGGA-AGA	Gly-Arg	Gaucher disease
430	CCC-CTC	Pro-Leu	Gaucher disease 1
431	AAT-ATT	Asn-Ile	Gaucher disease 2
432	TGG-TTG	Trp-Leu	Gaucher disease
432	tTGG-AGG	Trp-Arg	Gaucher disease
433	gGTG-TTG	Val-Leu	Gaucher disease
434	CGT-CCT	Arg-Pro	Gaucher disease 1
434	gCGT-TGT	Arg-Cys	Gaucher disease 1
435	AAC-ACC	Asn-Thr	Gaucher disease
436	TTT-TCT	Phe-Ser	Gaucher disease
437	tGTC-ATC	Val-Ile	Gaucher disease 1
437	tGTC-CTC	Val-Leu	Gaucher disease 3
437	tGTC-TTC	Val-Phe	Gaucher disease 2
438	cGAC-AAC	Asp-Asn	Gaucher disease
438	cGAC-TAC	Asp-Tyr	Gaucher disease 1
440	CCC-CTC	Pro-Leu	Gaucher disease 1
441	ATC-ACC	Ile-Thr	Gaucher disease
441	cATC-TTC	Ile-Phe	Gaucher disease 3
448	GAC-GGC	Asp-Gly	Gaucher disease
448	GAC-GTC	Asp-Val	Gaucher disease
448	gGAC-CAC	Asp-His	Gaucher disease 2
450	gTTT-ATT	Phe-Ile	Gaucher disease
451	tTAC-CAC	Tyr-His	Gaucher disease 1
452	cAAA-CAA	Lys-Gln	Gaucher disease
453	aCAG-TAG	Gln-Term	Gaucher disease
453	CAG-CGG	Gln-Arg	Gaucher disease
454	CCC-CGC	Pro-Arg	Gaucher disease 2
455	cATG-GTG	Met-Val	Gaucher disease 2
456	gTTC-GTC	Phe-Val	Gaucher disease 1
457	TAC-TGC	Tyr-Cys	Gaucher disease
460	GGC-GAC	Gly-Asp	Gaucher disease 1
464	cAAG-GAG	Lys-Glu	Gaucher disease
465	gTTC-GTC	Phe-Val	Gaucher disease
472	AGAg-AGT	Arg-Ser	Gaucher disease
472	gAGA-GGA	Arg-Gly	Gaucher disease
483	CTG-CCG	Leu-Pro	Gaucher disease 2
483	CTG-CGG	Leu-Arg	Gaucher disease
485	cGCA-CCA	Ala-Pro	Gaucher disease
490	CAT-CGT	His-Arg	Gaucher disease
495	tGCT-CCT	Ala-Pro	Gaucher disease
499	cGTG-ATG	Val-Met	Gaucher disease 1
500	CTA-CCA	Leu-Pro	Gaucher disease ?
501	AAC-AGC	Asn-Ser	Gaucher disease ?
501	AACc-AAG	Asn-Lys	Gaucher disease
502	cCGC-TGC	Arg-Cys	Gaucher disease
502	CGC-CAC	Arg-His	Gaucher disease
502	CGC-CCC	Arg-Pro	Gaucher disease ?
513	gGAT-TAT	Asp-Tyr	Gaucher disease 2
517	gGGC-AGC	Gly-Ser	Gaucher disease
519	CTG-CCG	Leu-Pro	Gaucher disease
527	cTCC-CCC	Ser-Pro	Gaucher disease 2
528	ATT-ACT	Ile-Thr	Gaucher disease ?
530	ACC-ATC	Thr-Ile	Gaucher disease 3
535	CGC-CAC	Arg-His	Gaucher disease
535	tCGC-TGC	Arg-Cys	Gaucher disease
536	CAG-CGG	Gln-Arg	Parkinson disease ?