MAN1B1 gene homepage

Euroglycanet logoCongenital Disorders of Glycosylation (CDG)
Some variants in this database are copied from the CDG database at the Euroglycanet site.
General information
Gene symbol MAN1B1
Gene name mannosidase, alpha, class 1B, member 1
Chromosome 9
Chromosomal band q34.3
Imprinted Unknown
Genomic reference NG_031978.1
Transcript reference NM_016219.4
Exon/intron information NM_016219.4 exon/intron table
Associated with diseases ID, MRT-15
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Gert Matthijs
Total number of public variants reported 32
Unique public DNA variants reported 30
Individuals with public variants 3
Hidden variants 10
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created September 05, 2012
Date last updated September 30, 2019
Version MAN1B1:190930

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_016219.4.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL http://www.LOVD.nl/MAN1B1
External URL Congenital Disorder of Glycosylation pages
HGNC 6823
Entrez Gene 11253
PubMed articles MAN1B1
OMIM - Gene 604346
OMIM - Diseases MRT-15 (mental retardation, autosomal recessive, type 15 (MRT-15))
HGMD MAN1B1
GeneCards MAN1B1
GeneTests MAN1B1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00011716 9 transcript variant 1 NM_016219.4 NP_057303.2 32


Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2012-2019. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.