Sequence information
Variant position: 302 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 463 The length of the canonical sequence.
Location on the sequence:
RGDYLLLKPEKCYLVKGNIY
P VPDSRFPFLGVHFTPRMDGS
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human RGDYLLLKPEKCYLVKGNIYP VPDSRFPFLGVHFTPRMDGS
Mouse RGDYLVLKPEKGYLVKGNIYP VPDSRFPFLGVHFTPRLDGT
Bovine RGDYLVLKPEKRYLVKGNIYP VPDSRFPFLGVHFTPRMDGN
Caenorhabditis elegans RGEYLLLKPEKRHLVKTNIYP VPDPRFPFLGVHFTPRMNGD
Slime mold RGSFLQFKPEFRHLIKGNVYP LPNASFPFLGVHFTKRINGE
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
Chain
52 – 463
L-2-hydroxyglutarate dehydrogenase, mitochondrial
Literature citations
L-2-hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1.
Topcu M.; Jobard F.; Halliez S.; Coskun T.; Yalcinkayal C.; Gerceker F.O.; Wanders R.J.A.; Prud'homme J.-F.; Lathrop M.; Ozguc M.; Fischer J.;
Hum. Mol. Genet. 13:2803-2811(2004)
Cited for: VARIANTS L2HGA ASP-55; TYR-98 AND LEU-302; TISSUE SPECIFICITY;
Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese origin.
Vilarinho L.; Cardoso M.L.; Gaspar P.; Barbot C.; Azevedo L.; Diogo L.; Santos M.; Carrilho I.; Fineza I.; Kok F.; Chorao R.; Alegria P.; Martins E.; Teixeira J.; Cabral-Fernandes H.; Verhoeven N.M.; Salomons G.S.; Santorelli F.M.; Cabral P.; Amorim A.; Jakobs C.;
Hum. Mutat. 26:395-396(2005)
Cited for: VARIANTS L2HGA ARG-57; ARG-98; LEU-302 AND PRO-434; VARIANTS ARG-18 AND PHE-178;
Disclaimer:
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.