LOVD POMT2 homepage

General information
Gene name Protein O-Mannosyltransferase 2
Gene symbol POMT2
Chromosome Location 14q24
Database location the Leiden Muscular Dystrophy pages
Curator Johan den Dunnen and Rosário dos Santos
PubMed references View all (unique) PubMed references in the POMT2 database
Date of creation August 07, 2006
Last update December 14, 2015
Version POMT2 151214
Add sequence variant Submit a sequence variant
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Reference sequence file coding DNA reference sequence for describing sequence variants
Genomic refseq ID NG_008897.1
Transcript refseq ID NM_013382.5
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 84
Total number of individuals with variant(s) 98
Total number of variants reported 160
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the POMT2 database, sorted by type of variant (with graphical displays and statistics)
Reading-frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes
UCSC Genome Browser Show variants in the UCSC Genome Browser (compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Sequence variant tables
Unique sequence variants Listing of all unique sequence variants in the POMT2 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the POMT2 database
Variants with no known pathogenicity Listing of all POMT2 variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)

Search the database
By type of variant View all sequence variants of a certain type
Simple search Query the database by selecting the most important variables (exon number, type of variant, disease phenotype)
Advanced search Query the database by selecting a combination of variables
Based on patient origin View all variants based on your patient origin search terms
Search through hidden entries Find the number of variant entries in the database (including hidden entries) matching your search terms.

Links to other resources
HGNC 19743
Entrez Gene 29954
OMIM - Gene 607439
OMIM - Disease #1 muscle-eye-brain disease (MEB)
OMIM - Disease #2 Walker-Warburg syndrome (WWS)
OMIM - Disease #3 muscular dystrophy-dystroglycanopathy, congenital, with brain and eye anomalies, type A2 (DDG-A2)
OMIM - Disease #4 muscular dystrophy-dystroglycanopathy, congenital, with mental reatardation, type B2 (MDDG-B2)
OMIM - Disease #5 muscular dystrophy-dystroglycanopathy, limb-girdle, type C2 (MDDG-C2)
HGMD POMT2
GeneCards POMT2
GeneTests POMT2

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 © 2017. 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.

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