The 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 exon/intron table
Associated with diseases GCE, ID
Citation reference(s) PubMed: Kume 1991, PubMed: Nanao 1994, PubMed: Kure 1992
Refseq URL Genomic reference sequence
Curators (1) Johan Van Hove
Total number of public variants reported 302
Unique public DNA variants reported 111
Individuals with public variants 190
Hidden variants 7
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.

This database was initially part of the Finnish Disease Resource (FinDis; Polvi et al: Hum Mutat. 2013:34:1458-66). We gratefully acknowledge the support of Juha Muilu acting as curator until 2015.
Date created August 30, 2012
Date last updated October 31, 2021
Version AMT:211031

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_000481.3.
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
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))
GeneCards AMT
GeneTests AMT
Orphanet AMT

Active transcripts




NCBI ID     

NCBI Protein ID     

00000277 3 transcript variant 1 NM_000481.3 NP_000472.2 302

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized 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 © 2012-2022. 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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