Literature summary for 3.2.1.24 extracted from

Riise Stensland, H.; Klenow, H.; Nguyen, L.; Hansen, G.; Malm, D.; Nilssen, �.
Identification of 83 novel alpha-mannosidosis-associated sequence variants: Functional analysis of MAN2B1 missense mutations (2012), Hum. Mutat., 33, 511-520.

Protein Variants

Protein Variants	Comment	Organism
A95P	inactive	Homo sapiens
C501S	more than 30% of wild type activity	Homo sapiens
C501S/R950P	inactive	Homo sapiens
C55F	inactive	Homo sapiens
D149N	inactive	Homo sapiens
D74E	inactive	Homo sapiens
F1000S	inactive	Homo sapiens
G390C	inactive	Homo sapiens
G420V	inactive	Homo sapiens
G451C	20-30% of wild type activity	Homo sapiens
G800R	inactive	Homo sapiens
G800W	inactive	Homo sapiens
G891R	inactive	Homo sapiens
H200L	more than 30% of wild type activity	Homo sapiens
H200N	more than 30% of wild type activity	Homo sapiens
H445Y	inactive	Homo sapiens
L352P	inactive	Homo sapiens
L565P	inactive	Homo sapiens
L892P	inactive	Homo sapiens
L956R	inactive	Homo sapiens
P197R	inactive	Homo sapiens
P263L	inactive	Homo sapiens
P379L	20-30% of wild type activity	Homo sapiens
R202P	20-30% of wild type activity	Homo sapiens
R229W	20-30% of wild type activity	Homo sapiens
R916C	inactive	Homo sapiens
R916H	inactive	Homo sapiens
R950P	inactive	Homo sapiens
S318L	more than 30% of wild type activity	Homo sapiens
S453F	20-30% of wild type activity	Homo sapiens
S453Y	inactive	Homo sapiens
T745R	inactive	Homo sapiens
V457E	more than 30% of wild type activity	Homo sapiens
Y99H	inactive	Homo sapiens

Localization	Comment	Organism	GeneOntology No.	Textmining
lysosome	-	Homo sapiens	5764	-

Organism	UniProt	Comment	Textmining
Homo sapiens	O00754	-	-

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
4-nitrophenyl alpha-D-mannopyranoside + H2O	-	Homo sapiens	4-nitrophenol + alpha-D-mannopyranose	-	?

Synonyms	Comment	Organism
MAN2B1	-	Homo sapiens