View AMT gene homepage

General information
Gene symbol AMT
Gene name aminomethyltransferase
Chromosome 3
Chromosomal band p21.2-p21.1
Imprinted Unknown
Genomic reference NG_015986.1
Transcript reference NM_000481.3
Exon/intron information NM_000481.3
Associated with diseases GCE, ID
Citation reference(s) Kume 1991, Nanao 1994, Kure 1992
Refseq URL Genomic reference sequence
Curators (2) Johan Van Hove and Juha Muilu
Total number of public variants reported 255
Unique public DNA variants reported 84
Individuals with public variants 115
Hidden variants 5
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.

This database was initially part of the Finnish Disease Resource (FinDis; Polvi et al: Hum Mutat. 2013:34:1458-66).
Date created August 30, 2012
Date last updated May 05, 2017
Version AMT:170505

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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/AMT
External URL Finnish Disease Database (FinDis)
See also GCSH mutations
See also GLDC mutations
HGNC 473
Entrez Gene 275
PubMed articles AMT
OMIM - Gene 238310
OMIM - Diseases GCE (encephalopathy, glycine (GCE))
HGMD AMT
GeneCards AMT
GeneTests AMT


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000277 3 transcript variant 1 NM_000481.3 NP_000472.2 255


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 © 2012-2017. 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.

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.