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

Interactive list of patients and genotypes

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pidAscending	Severity of Disease	COB	Allele 1 cDNA	Allele 1 Protein	Allele 2 cDNA	Allele 2 Protein	# Publ. /Refs.
1	Type 2	PK	c.2867T>G	p.Leu956Arg	c.2867T>G	p.Leu956Arg	1
2	Type 2	ES	c.1687G>T	p.Glu563*	c.1687G>T	p.Glu563*	1
3	Type 2	IT	c.293dupA	p.Tyr99Valfs*62	c.293dupA	p.Tyr99Valfs*62	2
4	Type 2	IT	c.2332_2335delGTCA	p.Val778Thrfs*13	c.2332_2335delGTCA	p.Val778Thrfs*13	1
5	Type 2	IT	c.2248C>T	p.Arg750Trp	c.2248C>T	p.Arg750Trp	2
7	Type 2	NO	c.1152_1153dupCC	p.His385Profs*93	c.1831-2A>G	p.His611Glyfs*3	2
8	Type 2	NO	c.1152_1153dupCC	p.His385Profs*93	c.1831-2A>G	p.His611Glyfs*3	2
9		FI	c.2248C>T	p.Arg750Trp	c.2248C>T	p.Arg750Trp	2
10	Type 2	NO	c.1830+1G>C	p.Val549_Glu610del	c.2426T>C	p.Leu809Pro	1
11	Type 2	NO	c.1152_1153dupCC	p.His385Profs*93	c.1152_1153dupCC	p.His385Profs*93	1
12	Type 2	DE	c.1077C>A	p.Tyr359*	c.1420-3del25	p.Val474_Arg509del36 p.Val474_Gln495del22	1
13	Type 2	DE	c.1816delA	p.Thr606Profs*18	c.1830+1G>C	p.Val549_Glu610del	3
14	Type 2	ES	c.2140T>C	p.Trp714Arg	c.2140T>C	p.Trp714Arg	3
15		US	c.2248C>T	p.Arg750Trp	c.2248C>T	p.Arg750Trp	3
16	Type 2	FI	c.1915C>T	p.Gln639*	c.2248C>T	p.Arg750Trp	5
17	Type 2	US	c.1067C>G	p.Pro356Arg	c.1067C>G	p.Pro356Arg	2
18		RE	c.965_966delAT	p.Tyr322*	c.965_966delAT	p.Tyr322*	3
19		SE	c.2426T>C	p.Leu809Pro	c.2426T>C	p.Leu809Pro	1
20	Type 2	IT	c.1063A>C	p.Thr355Pro	c.2165+1G>T	p.Thr683Argfs*12 p.Trp714Cys_Ser715Gly722del8	1
21	Type 3	IT	c.1351G>T	p.Gly451Cys	c.2165+1G>T	p.Thr683Argfs*12 p.Trp714Cys_Ser715Gly722del8	3
22	Type 1	PS	c.215A>T	p.His72Leu	c.215A>T	p.His72Leu	3
23	Type 1	PS	c.215A>T	p.His72Leu	c.215A>T	p.His72Leu	3
24	Type 2	NL	c.231G>A	p.Trp77*	c.2398G>C	p.Gly800Arg	2
25	Type 2	PL	c.2248C>T	p.Arg750Trp	c.2248C>T	p.Arg750Trp	2
26	Type 2	DE	c.1026+2T>G	p.Gln339_Val342del4	c.1077C>A	p.Tyr359*	2

1 - 25 of 191

Interactive world map of Patients

References

Riise Stensland et al. 2012

Will et al. 1987

Patient statistics

Total number of patients

191

Number of male patients:

103

Number of female patients:

Number of patients with gender unknown:

Number of patients with year of birth known:

182

Number of patients with year of birth unknown:

Number of patients with clinical data:

Number of patients without clinical data:

Number of patients with mutation data:

190

Number of patients without mutation data:

# of Patients by Nationality