alpha-Mannosidosis Mutation Database
A database on mutations, genotypes and the clinical and molecular aspects of alpha-Mannosidosis

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2Benign Mutations, Animal Model

1 - 154 of 154

PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
152	c.152delG	p.Gly51Aspfs*13	Deletion	Exon 1	1	2
157	c.157G>T	p.Glu53*	Nonsense	Exon 1
164	c.164G>T	p.Cys55Phe	Missense	Exon 2	2	2
215	c.215A>T	p.His72Leu	Missense	Exon 2	2	4
222	c.222C>A	p.Asp74Glu	Missense	Exon 2	1	1
231	c.231G>A	p.Trp77*	Nonsense	Exon 2	1	1
241	c.241delG	p.Val81Trpfs*76	Deletion	Exon 2	1	1
283	c.283G>C	p.Ala95Pro	Missense	Exon 3	4	8
293	c.293dupA	p.Tyr99Valfs*62	Duplication	Exon 3	1	2
295	c.295T>C	p.Tyr99His	Missense	Exon 3	1	1
304	c.304G>A	p.Asp102Asn	Missense	Exon 3
322	c.322_323insA	p.Leu108Tyrfs*53	Insertion	Exon 3
338	c.338_348dup11	p.Ile117Profs*44	Duplication	Exon 3	1	2
383	c.383G>A	p.Trp128*	Nonsense	Exon 3
418	c.418C>T	p.Arg140*	Nonsense	Exon 3	3	4
422	c.422delA	p.Asp141Alafs*16	Deletion	Exon 3	3	3
436	c.436+145del644	p.Gly146Aspfs*12	Large deletion	Intron 3	1	1
458	c.458G>T	p.Gly153Val	Missense	Exon 4	2	2
475	c.475G>A	p.Asp159Asn	Missense	Exon 4	1	2
478	c.478G>A	p.Trp193*	Nonsense	Exon 4	1	1
484	c.484_487dupGCCA	p.Thr163Serfs*25	Duplication	Exon 4	1	2
561	c.561delG	p.Arg188Aspfs*58	Deletion	Exon 4	2	2
562	c.562C>T	p.Arg188*	Nonsense	Exon 4
590	c.590C>G	p.Pro197Arg	Missense	Exon 4	1	1
598	c.598C>A	p.His200Asn	Missense	Exon 4	2	2
599	c.599A>T	p.His200Leu	Missense	Exon 4	2	2
605	c.605G>C	p.Arg202Pro	Missense	Exon 4	1	2
662	c.662G>A	p.Arg221His	Animal model	Exon 5
679	c.679C>T	p.Arg227Trp	Animal model
685	c.685C>T	p.Arg229Trp	Missense	Exon 5	5	5
709	c.709C>T	p.Gln237*	Nonsense	Exon 5	2	2
743	c.743C>T	p.Pro248Leu	Benign	Exon 5
747	c.747C>T	p.= (silent)	Benign	Exon 5
764	c.764-1G>C	p.Val256_Gly260del5	Splice	Intron 5	1	1
783	c.783C>A	p.Tyr261*	Nonsense	Exon 6	1	2
788	c.788C>T	p.Pro263Leu	Missense	Exon 6	1	1
809	c.809dupA	p.Asp270Glufs*54	Duplication	Exon 6	1	1
812	c.812_813dupTG	p.Leu272Cysfs*27	Duplication	Exon 6	1	2
832	c.832C>G	p.Leu278Val	Benign	Exon 6
844	c.844C>T	p.Pro282Ser	Benign	Exon 6
909	c.909+731del6272	p.Gly304_Asp548del245	Large deletion	Intron 6	2	2
912	c.912_913insAGGC	p.Tyr306Profs*19	Insertion	Exon 7	1	1
935	c.935C>T	p.Thr312Ile	Benign	Exon 7
953	c.953C>T	p.Ser318Leu	Missense	Exon 7	1	1
961	c.961T>C	p.Phe321Leu	Animal model	Exon 7
965	c.965_966delAT	p.Tyr322*	Deletion	Exon 7	1	2
1010	c.1010G>A	p.Arg337Gln	Benign	Exon 7
1026	c.1026+2T>G	p.Gln339_Val342del4	Splice	Intron 7	8	10
1047	c.1047_1048dupCC	p.His350Profs*15	Duplication	Exon 8
1055	c.1055T>C	p.Leu352Pro	Missense	Exon 8	2	4
1063	c.1063A>C	p.Thr355Pro	Missense	Exon 8	1	1
1067	c.1067C>G	p.Pro356Arg	Missense	Exon 8	1	2
1076	c.1076dupA	p.Tyr359*	Duplication	Exon 8	1	2
1077	c.1077C>A	p.Tyr359*	Nonsense	Exon 8	2	2
1109	c.1109+3A>G		VUS (Unknown clinical significance)	Intron 8	1	1
1109	c.1109G>A	p.Trp370*	Nonsense	Exon 8	2	4
1136	c.1136C>T	p.Pro379Leu	Missense	Exon 9	1	1
1152	c.1152_1153dupCC	p.His385Profs*93	Duplication	Exon 9	3	4
1156	c.1156dupC	p.Gln386ProfxS53	Duplication	Exon 9	2	2
1168	c.1168G>T	p.Gly390Cys	Missense	Exon 9	1	2
1197	c.1197dupA	p.Arg400Thrfs*39	Duplication	Exon 9	1	2
1204	c.1204G>A	p.Glu402Lys	Benign	Exon 9	1	1
1230	c.1230+5G>A		VUS (Unknown clinical significance)	Intron 9	2	2
1238	c.1238A>G	p.Asn413Ser	Benign	Exon 10
1259	c.1259G>T	p.Gly420Val	Missense	Exon 10	2	2
1309	c.1309+1G>T	p.Val411Metfs*40	Splice	Intron 10	1	1
1309	c.1309+34C>A	(intronic)	Benign	Intron 10
1310	c.1310-22T>C	(intronic)	Benign	Intron 10
1310	c.1310-2A>G	Not expressed	Splice	Intron 10	1	1
1333	c.1333C>T	p.His445Tyr	Missense	Exon 11	2	4
1351	c.1351G>T	p.Gly451Cys	Missense	Exon 11	3	3
1358	c.1358C>A	p.Ser453Tyr	Missense	Exon 11	1	2
1358	c.1358C>T	p.Ser453Phe	Missense	Exon 11	2	4
1370	c.1370T>A	p.Val457Glu	Missense	Exon 11	2	2
1383	c.1383C>A	p.Tyr461*	Nonsense	Exon 11	6	6
1383	c.1383C>G	p.Tyr461*	Nonsense	Exon 11	1	2
1388	c.1388_1389delGC	p.Arg463Profs*53	Deletion	Exon 11	2	2
1390	c.1390C>T	p.Gln464*	Nonsense	Exon 11	1	1
1420	c.1420-3del25	p.Val474_Arg509del36 p.Val474_Gln495del22	Splice	Intron 11	1	1
1441	c.1441G>T	p.Ala481Ser	Benign	Exon 12
1501	c.1501T>A	p.Cys501Ser	VUS (Unknown clinical significance)	Exon 12
1519	c.1519delG	p.Ala507Argfs*16	Deletion	Exon 12	1	2
1527	c.1527+2T>G	p.Val474_Arg509del36	Splice	Intron 12	3	6
1527	c.1527+1G>C	No experimental data	Splice	Intron 12	1	2
1527	c.1527+2T>A	p.Val474_Arg509del36 p.Phe510Valfs*15	Splice	Intron 12	1	1
1548	c.1548delT	p.Leu518Trpfs*5	Deletion	Exon 13	1	1
1553	c.1553T>C	p.Leu518Pro	Missense	Exon 13
1584	c.1584_1585insT	p.Pro529Serfs*82	Insertion	Exon 13	1	1
1645	c.1645-1G>A	No experimental data	Splice	Intron 13	1	1
1687	c.1687G>T	p.Glu563*	Nonsense	Exon 14	3	6
1694	c.1694T>C	p.Leu565Pro	Missense	Exon 14	1	1
1759	c.1759_1762delCCAG	p.Q584fAlas*62	Animal model
1816	c.1816delA	p.Thr606Profs*18	Deletion	Exon 14	3	3
1830	c.1830+1G>A	No experimental data	Splice	Intron 14	1	1
1830	c.1830+1G>C	p.Val549_Glu610del	Splice	Intron 14	20	22
1831	c.1831-2A>G	p.His611Glyfs*3	Splice	Intron 14	4	6
1858	c.1858dupA	p.Thr620Asnfs*31	Duplication	Exon 15	2	4
1915	c.1915C>T	p.Gln639*	Nonsense	Exon 15	1	1
1929	c.1929-2A>G	No experimental data	Splice	Intron 15	1	2
1929	c.1929G>A	p.Trp643*	Nonsense	Exon 16	1	1
2006	c.2006C>T	p.Pro669Leu	Benign	Exon 16
2013	c.2013delT	p.Val672*	Deletion	Exon 16	1	2
2140	c.2140T>C	p.Trp714Arg	Missense	Exon 17	2	3
2165	c.2165+1G>T	p.Thr683Argfs*12 p.Trp714Cys_Ser715Gly722del8	Splice	Intron 17	2	2
2165	c.2165+1G>A	p.Thr683Argfs*12 p.Trp714Cys_Ser715Gly722del8	Splice	Intron 17	2	4
2219	c.2219delA	p.Lys740Argfs*26	Deletion	Exon 18	1	1
2234	c.2234C>G	p.Thr745Arg	Missense	Exon 18	1	2
2248	c.2248C>T	p.Arg750Trp	Missense	Exon 18	74	110
2251	c.2251G>T	p.Glu751*	Nonsense	Exon 18	1	1
2267	c.2267+63G>A	(intronic)	Benign	Intron 18
2267	c.2267+3G>C	(intronic)	Benign	Intron 18
2268	c.2268-45T>G	(intronic)	Benign	Intron 18
2278	c.2278C>T	p.Arg760*	Nonsense	Exon 19
2299	c.2299C>T	p.Gln767*	Nonsense	Exon 19	4	6
2332	c.2332_2335delGTCA	p.Val778Thrfs*13	Deletion	Exon 19	1	2
2355	c.2355G>A	p.Arg757Metfs*6	Splice	Exon 19	5	6
2355	c.2355+1G>C	p.Arg757Metfs*6	Splice	Intron 19	1	2
2368	c.2368C>T	p.Gln790*	Nonsense	Exon 20	2	4
2398	c.2398G>C	p.Gly800Arg	Missense	Exon 20	1	1
2398	c.2398G>T	p.Gly800Trp	Missense	Exon 20	2	2
2402	c.2402G>A	p.Gly801Asp	Missense	Exon 20
2402	c.2402dupG	p.Ser802Glnfs*129	Duplication	Exon 20	5	7
2426	c.2426T>C	p.Leu809Pro	Missense	Exon 20	11	12
2436	c.2436+5G>A	p.Asp786_Met812del27	Splice	Intron 20	1	1
2436	c.2436+1G>A	p.Asp786_Met812del27	Splice	Intron 20	1	2
2436	c.2436+408del11022		Large deletion	Intron 20	1	2
2437	c.2437-2A>G	p.His814Leufs*41	Splice	Intron 20	1	2
2439	c.2439_2444dup6	p.His814_Arg815dup	Duplication	Exon 21	1	1
2443	c.2443C>T	p.Arg815*	Nonsense	Exon 21	1	1
2515	c.2515C>T	p.Arg839*	Nonsense	Exon 21	1	1
2548	c.2548delC	p.Gln850Argfs*74	Deletion	Exon 21	2	4
2587	c.2587G>T	p.Glu863*	Nonsense	Exon 21	1	1
2660	c.2660delC	p.Thr887Serfs*45	Deletion	Exon 22
2667	c.2667_2668delCT	p.Ser890Argfs*40	Deletion	Exon 22	1	2
2669	c.2669C>G	p.Ser890*	Nonsense	Exon 22	2	2
2671	c.2671G>A	p.Gly891Arg	Missense	Exon 22	1	1
2675	c.2675dupT	p.Arg893Alafs*38	Duplication	Exon 22	1	1
2675	c.2675T>C	p.Leu892Pro	Missense	Exon 22	1	1
2724	c.2724G>A	p.Trp908*	Nonsense	Exon 22	2	3
2727	c.2727_2745dup19	p.Arg916Profs*21	Duplication	Exon 22	2	4
2746	c.2746C>A	p.Arg916Ser	Missense	Exon 22
2746	c.2746C>T	p.Arg916Cys	Missense	Exon 22	1	1
2747	c.2747G>A	p.Arg916His	Missense	Exon 22	1	1
2802	c.2802dupC	p.Val935Argfs*120	Duplication	Exon 22	1	2
2849	c.2849G>C	p.Arg950Pro	Missense	Exon 23	1	1
2851	c.2851delC	p.Leu951Cysfs*82	Deletion	Exon 23	1	2
2865	c.2865G>C	p.= (silent)	Benign	Exon 23
2867	c.2867T>G	p.Leu956Arg	Missense	Exon 23	2	3
2885	c.2885G>A	p.Arg962His	VUS (Unknown clinical significance)	Exon 23
2900	c.2900_2901dupGG	p.Leu968Glyfs*66	Duplication	Exon 23	2	2
2920	c.2920dupA	p.Thr974Asnfs*81	Duplication	Exon 23	1	2
2921	c.2921_2922delCA	p.Thr974Argfs*80	Deletion	Exon 23	1	2
2944	c.2944_2947del	p.Pro982Thrfs*50	Deletion	Exon 24	1	1
2999	c.2999T>C	p.Phe1000Ser	Missense	Exon 24	1	1

1 - 154 of 154

c.1694T>C, p.Leu565Pro

The sequence variant c.1694T>C in exon 14 changes leucine in position 565 to proline (p.Leu565Pro). Studies in transfected cells show that p.Pro565 is inactive, not processed and retained in the ER. 3d-modelling indicates that p.Leu565Pro causes misfolding of the enzyme.

Mutation Details

Mutation type

Missense

Localization

Exon 14

Number of Patients

Detected

Experimental data

Residual activity*

Some

Intracellular processing*

Intracellular localization*

Secreted into medium*

3D-model

Destabilisation of β-sheet (β1)

*= in transfected mammalian cells

Additional experimental data

Residual activity in BHK-21 cells*

*= in transfected mammalian cells

References

Riise Stensland et al. 2012

Kuokkanen et al. 2011

Patients w/ c.1694T>C / p.Leu565Pro

1-1

PID	Gender	COB	Year of birth	Clinical subtype	Allele 1 CDNA	Allele 1 Protein	Allele 2 CDNA	Allele 2 Protein	Clinic	Affsibs
29	***	Poland	***	Type 3	c.1694T>C	p.Leu565Pro	c.2248C>T	p.Arg750Trp	Yes	***

1-1

Primary Mutation Type Distribution