AMT gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol AMT
Gene name aminomethyltransferase
Chromosome 3
Chromosomal band p21.2-p21.1
Imprinted Unknown
Genomic reference NC_000003.11
Transcript reference NM_000481.3, NM_001164710.1, NM_001164711.1, NM_001164712.1, NR_028435.1
Associated with diseases 605899 GCE
Citation reference(s) -
Curators (4) Lishuang Shen, Johan Van Hove, Curtis Coughlin II and Marni J Falk
Total number of public variants reported 66
Unique public DNA variants reported 66
Individuals with public variants 0
Hidden variants 0
Download all this gene's data Download all data
Notes MSeqDR-LSDB
Date created November 12, 2013

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
HGNC 473
Entrez Gene 275
PubMed articles AMT
OMIM - Gene 238310
OMIM - Diseases 605899 GCE (GLYCINE ENCEPHALOPATHY)
HGMD AMT
GeneCards AMT
GeneTests AMT


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000464 3 transcript variant 3 NM_001164711.1 NP_001158183.1 66
00000465 3 transcript variant 5 NR_028435.1 - 66
00000466 3 transcript variant 2 NM_001164710.1 NP_001158182.1 66
00000467 3 transcript variant 4 NM_001164712.1 NP_001158184.1 66
00000468 3 transcript variant 1 NM_000481.3 NP_000472.2 66


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; NuclearMitome http://www.transgenomic.com ; MitoPhenome http://mitophenome.org ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium