Variant position: 361 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 TRFQTKIPNIYAIGDVVAGP MLAHKAEDEGIICVEGMAGGA
Mouse NRFQTKIPNIYAIGDVVAGP MLAHKAEDEGIICVEGMAGGA
Rat TRFQTKIPNIFAIGDVVAGP MLAHKAEDEGIICVEGMAGGA
Pig TRFQTKIPNIYAIGDVVAGP MLAHKAEDEGIICVEGMAGGA
Caenorhabditis elegans ERFQTKVPSIFAIGDVIEGP MLAHKAEDEGILCVEGIAGGP
Slime mold DHFNTKVPSIFAIGDAIRGP MLAHKAEEEGIAIIEQIHNGG
Baker's yeast DQFNSKFPHIKVVGDVTFGP MLAHKAEEEGIAAVEMLKTGH
Fission yeast SEYRTNIPHIRVIGDATLGP MLAHKAEDEGIAAVEYIAKGQ
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
361 – 364 FAD
355 – 355 FAD
346 – 346 N6-acetyllysine
Novel mutations in a boy with dihydrolipoamide dehydrogenase deficiency.
Cerna L.; Wenchich L.; Hansikova H.; Kmoch S.; Peskova K.; Chrastina P.; Brynda J.; Zeman J.;
Med. Sci. Monit. 7:1319-1325(2001)
Cited for: VARIANTS DLDD VAL-361 AND LYS-375;
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