Variant position: 393 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 CVEGMAGGAVHIDYNCVPSV IYTHPEVAWVGKSEEQLKEEG
Mouse CVEGMAGGAVHIDYNCVPSV IYTHPEVAWVGKSEEQLKEEG
Rat CVEGMAGGAVHIDYNCVPSV IYTHPEVAWVGKSEEQLKEEG
Pig CVEGMAGGAVHIDYNCVPSV IYTHPEVAWVGKSEEQLKEEG
Caenorhabditis elegans CVEGIAGGPVHIDYNCVPSV VYTHPEVAWVGKAEEQLKQEG
Slime mold IIEQIHNGGGHVNYGAIPSI IYTHPEVAWVGKTEEELQKEG
Baker's yeast AVEMLKTGHGHVNYNNIPSV MYSHPEVAWVGKTEEQLKEAG
Fission yeast AVEYIAKGQGHVNYNCIPAV MYTHPEVAWVGITEQKAKESG
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
410 – 410 N6-acetyllysine; alternate
410 – 410 N6-succinyllysine; alternate
383 – 383 H -> A. Reduces dihydrolipoyl dehydrogenase activity.
383 – 383 H -> L. Reduces dihydrolipoyl dehydrogenase activity.
391 – 393
Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation.
Grafakou O.; Oexle K.; van den Heuvel L.; Smeets R.; Trijbels F.; Goebel H.H.; Bosshard N.; Superti-Furga A.; Steinmann B.; Smeitink J.;
Eur. J. Pediatr. 162:714-718(2003)
Cited for: VARIANT DLDD THR-393;
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