Variant position: 47 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 509 The length of the canonical sequence.
Location on the sequence:
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 LSAVPLRTYADQ---PIDADVTV IGSGPGGYVAAIKAAQLGFKT
Mouse VSSVPLRTYADQ---PIEADVTV IGSGPGGYVAAIKSAQLG
Rat ASSVPLRTYSDQ---PIDADVTV IGSGPGGYVAAIKAAQLG
Pig VSAVPLRTYADQ---PIDADVTV IGSGPGGYVAAIKAAQLG
Caenorhabditis elegans --QVLARNYSNT----QDADLVV IGGGPGGYVAAIKAAQLG
Slime mold --TFGQRFFSTE-----QQDVVV IGGGPGGYVAGIKAGQLG
Baker's yeast --SSTVRTLTIN----KSHDVVI IGGGPAGYVAAIKAAQLG
Fission yeast QIEISKRLYSAKASGNGEYDLCV IGGGPGGYVAAIRGAQLG
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
36 – 509 Dihydrolipoyl dehydrogenase, mitochondrial
66 – 66 N6-acetyllysine; alternate
66 – 66 N6-succinyllysine; alternate
1 – 99 Missing. In isoform 2.
40 – 47
Novel mutations in dihydrolipoamide dehydrogenase deficiency in two cousins with borderline-normal PDH complex activity.
Cameron J.M.; Levandovskiy V.; Mackay N.; Raiman J.; Renaud D.L.; Clarke J.T.; Feigenbaum A.; Elpeleg O.; Robinson B.H.;
Am. J. Med. Genet. A 140:1542-1552(2006)
Cited for: VARIANTS DLDD THR-47; CYS-229 AND LYS-375; CATALYTIC ACTIVITY;
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.