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.2999T>C, p.Phe1000Ser

The sequence variant c.2999T>C in exon 24 changes phenylalanine in position 1000 to serine (p.Phe1000Ser). Studies in transfected cells show that p.Phe1000 is inactive, not processed and retained in the ER. p.Phe1000 is located in the interior of the enzyme, and 3d-modelling indicates that p.Phe1000Ser may interfere with the folding process.

Mutation Details

Mutation type

Missense

Localization

Exon 24

Number of Patients

Detected

Experimental data

Residual activity*

Intracellular processing*

Yes, weak

Intracellular localization*

Secreted into medium*

3D-model

Core of ß3

*= in transfected mammalian cells

Additional experimental data

Residual activity in CHO-KI cells*

Intracellular localization in CHO-KI cells*

Secreted into medium in CHO-KI cells*

*= in transfected mammalian cells

References

Riise Stensland et al. 2012

Kuokkanen et al. 2011

Patients w/ c.2999T>C / p.Phe1000Ser

1-1

PID	Gender	COB	Year of birth	Clinical subtype	Allele 1 CDNA	Allele 1 Protein	Allele 2 CDNA	Allele 2 Protein	Clinic	Affsibs
71	***	Australia	***	Type 1	c.1383C>A	p.Tyr461*	c.2999T>C	p.Phe1000Ser	Yes	***

1-1

Primary Mutation Type Distribution