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

Mutations

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Primary

1 - 43 of 43

PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
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
283	c.283G>C	p.Ala95Pro	Missense	Exon 3	4	8
295	c.295T>C	p.Tyr99His	Missense	Exon 3	1	1
304	c.304G>A	p.Asp102Asn	Missense	Exon 3
458	c.458G>T	p.Gly153Val	Missense	Exon 4	2	2
475	c.475G>A	p.Asp159Asn	Missense	Exon 4	1	2
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
685	c.685C>T	p.Arg229Trp	Missense	Exon 5	5	5
788	c.788C>T	p.Pro263Leu	Missense	Exon 6	1	1
953	c.953C>T	p.Ser318Leu	Missense	Exon 7	1	1
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
1136	c.1136C>T	p.Pro379Leu	Missense	Exon 9	1	1
1168	c.1168G>T	p.Gly390Cys	Missense	Exon 9	1	2
1259	c.1259G>T	p.Gly420Val	Missense	Exon 10	2	2
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
1553	c.1553T>C	p.Leu518Pro	Missense	Exon 13
1694	c.1694T>C	p.Leu565Pro	Missense	Exon 14	1	1
2140	c.2140T>C	p.Trp714Arg	Missense	Exon 17	2	3
2234	c.2234C>G	p.Thr745Arg	Missense	Exon 18	1	2
2248	c.2248C>T	p.Arg750Trp	Missense	Exon 18	74	110
2398	c.2398G>T	p.Gly800Trp	Missense	Exon 20	2	2
2398	c.2398G>C	p.Gly800Arg	Missense	Exon 20	1	1
2402	c.2402G>A	p.Gly801Asp	Missense	Exon 20
2426	c.2426T>C	p.Leu809Pro	Missense	Exon 20	11	12
2671	c.2671G>A	p.Gly891Arg	Missense	Exon 22	1	1
2675	c.2675T>C	p.Leu892Pro	Missense	Exon 22	1	1
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
2849	c.2849G>C	p.Arg950Pro	Missense	Exon 23	1	1
2867	c.2867T>G	p.Leu956Arg	Missense	Exon 23	2	3
2999	c.2999T>C	p.Phe1000Ser	Missense	Exon 24	1	1

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Primary Mutation Type Distribution