L2hgdh - SNV Details



 Human Rare Diseases 
L-2-hydroxyglutaric aciduria

 Gene Information 
Gene Name L2hgdh
Old Gene Names for L2hgdh Bc016226
Gene Description L-2-hydroxyglutarate dehydrogenase [Source:MGI Symbol;Acc:MGI:2384968]
Uniprot Name
CCDS Name
Gene GO
oxidation-reduction process; mitochondrion; oxidoreductase activity; 2-hydroxyglutarate dehydrogenase activity; integral component of membrane; cellular protein metabolic process
Homolog in other species L2HGDH
Omim http://omim.org/entry/609584
Immgen Expression
MEDIAN(LOWER IN MYELOID GROUP AND DC.LC.SK)
Gnf Expression
LOW/MEDIAN
LOW/MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000020988
Chromosome 12
Coordinate 69,692,480     (Assembly: GRCm38)    
Ref Base G
Codon Change Cgg/Tgg
Var Base A
Zygosity Heterozygous
Read Depth 12
Allele Frequency
G:R0.42
A:V0.58
Amino Acid Position 406
Amino Acid Change R->W (Arginine -> Tryptophan)
Sample ID IGL02670
Median Base Quality 40.5
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 28 Other Mutations

 Predictions 
Polyphen Score 0.45
Polyphen Prediction Possibly damaging
Sift Score 0.01
Sift Prediction deleterious

 Protein domains 
ENSMUSP00000021370:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
FAD dependent oxidoreductase FAD-dep_OxRdtase IPR006076 ENSMUSP00000021370 Pfam 51
456 Description available Search pathways

 Availability Details 
Availability Cryopreserved