Sequence information
Variant position: 434 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:
NLVEDFVFDAGVGDIGNRIL
H VRNAPSPAATSSIAISGMIA
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 NLVEDFVFDAGVGDIGNRILH VRNAPSPAATSSIAISGMIA
Mouse NLVEDFVFDGGTGEIADRVLH VRNAPSPAATSSLAISRMIA
Bovine NLIEDFVFDGGVGDIGNRILH VRNAPSPAATSSLAISGMIA
Caenorhabditis elegans NLVDDFVFDSGTGKLSPLLMH VRNAPSPAATSSLAIAKMIT
Slime mold DLIEDFIFDTPS---DVPIIH VRNSPSPAATSSLAIAIEIV
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
Alternative sequence
401 – 463
Missing. In isoform 2.
Literature citations
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.