alpha-Mannosidosis Mutation Database
A database on mutations, genotypes and the clinical and molecular aspects of alpha-Mannosidosis
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Experimental Data
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Experimental Data
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Access unpublished data
Additional Experiments
Protein
Position
Residual activity
BHK-21*
Intracellular processing
BHK-21*
Secreted into medium
BHK-21*
Residual activity
CHO-KI*
Intracellular processing
CHO-KI*
Secreted into medium
CHO-KI*
-
p.Cys55Phe
55
No
No
No
-
-
-
-
p.His72Leu
72
-
-
-
No
Yes
Yes
-
p.Asp74Glu
74
No
-
-
-
-
-
-
p.Ala95Pro
95
No
-
-
No
Abnormal
Yes
-
p.Tyr99His
99
No
-
-
-
-
-
-
p.Asp102Asn
102
-
-
-
-
-
-
-
p.Gly153Val
153
-
-
-
-
-
-
-
p.Asp159Asn
159
-
-
-
Some
Yes
Yes
-
p.Pro197Arg
197
No
-
-
No
No
Yes
-
p.His200Leu
200
Some
Yes, weak
Yes
-
-
-
-
p.His200Asn
200
Yes
-
-
-
-
-
-
p.Arg202Pro
202
Some
-
-
-
-
-
-
p.Arg229Trp
229
Yes
-
-
-
-
-
-
p.Pro248Leu
248
-
-
-
-
-
-
-
p.Val256_Gly260del5
256
-
-
-
-
-
-
-
p.Pro263Leu
263
No
Yes, weak
Yes
-
-
-
-
p.Leu278Val
278
Yes
Yes
Yes
Yes
Yes
Yes
-
p.Pro282Ser
282
-
-
-
-
-
-
-
p.Thr312Ile
312
-
-
-
-
-
-
-
p.Ser318Leu
318
Some
Yes
Yes
-
-
-
-
p.Arg337Gln
337
-
-
-
-
-
-
-
p.Gln339_Val342del4
339
-
-
-
-
-
-
-
p.Leu352Pro
352
-
-
-
-
-
-
-
p.Thr355Pro
355
-
-
-
No
No
No
-
p.Pro356Arg
356
-
-
-
No
No
No
-
p.Pro379Leu
379
No
-
-
-
-
-
-
p.Gly390Cys
390
-
-
-
No
No
No
-
p.Glu402Lys
402
-
-
-
-
-
-
-
p.Asn413Ser
413
-
-
-
-
-
-
-
p.Gly420Val
420
Some
-
-
Yes
Abnormal
No
-
p.His445Tyr
445
-
-
-
-
-
-
-
p.Gly451Cys
451
-
-
-
-
-
-
-
p.Ser453Tyr
453
No
-
-
-
-
-
-
p.Ser453Phe
453
Some
Yes, weak
-
-
-
-
-
p.Val457Glu
457
Some
Yes, weak
Yes
-
-
-
-
p.Ala481Ser
481
-
-
-
-
-
-
-
p.Cys501Ser
501
-
-
-
-
-
-
-
p.Leu565Pro
565
No
-
-
-
-
-
-
p.Pro669Leu
669
-
-
-
-
-
-
-
p.Trp714Arg
714
-
-
-
No
No
No
-
p.Thr745Arg
745
No
Abnormal
No
-
-
-
-
p.Arg750Trp
750
No
No
No
No
No
No
-
p.Gly800Trp
800
No
-
-
No
No
Yes, weak
-
p.Gly800Arg
800
-
-
-
-
-
-
-
p.Leu809Pro
809
-
-
-
No
No
No
-
p.His814_Arg815dup
814
No
-
-
-
-
-
-
p.Gly891Arg
891
Yes
-
-
-
-
-
-
p.Leu892Pro
892
-
-
-
No
No
No
-
p.Arg916His
916
No
-
-
-
-
-
-
p.Arg916Cys
916
-
-
-
-
-
-
-
p.Arg950Pro
950
-
-
-
-
-
-
-
p.Leu956Arg
956
Some
-
-
-
-
-
-
p.Arg962His
962
-
-
-
-
-
-
-
p.Phe1000Ser
1000
-
-
-
No
No
No
*= in transfected mammalian cells