alpha-Mannosidosis Mutation Database
A database on mutations, genotypes and the clinical and molecular aspects of alpha-Mannosidosis
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Benign Mutations
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Animal Model
2
Benign Mutations, Animal Model
1 - 154 of 154
Pos
Ascending
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
Search
c.1915C>T, p.Gln639*
Predicted effect at the protein level: p.Gln639* () is replaced with p.Gln639* () at amino acid position p.Gln639*
(p.p.Gln639*, p.Gln639*).
Mutation Details
Mutation type
Nonsense
Localization
Exon 15
Number of Patients
1
Detected
1
References
Gotoda et al. 1998
Berg et al. 1999
Patients w/ c.1915C>T / p.Gln639*
1-1
PID
Gender
COB
Year
of birth
Clinical
subtype
Allele 1 CDNA
Allele 1 Protein
Allele 2 CDNA
Allele 2 Protein
Clinic
Affsibs
16
***
Finland
***
Type 2
c.1915C>T
p.Gln639*
c.2248C>T
p.Arg750Trp
***
1-1
Primary Mutation Type Distribution