Variant position: 496 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 751 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 EDPTFKVYFDTENKETVISG MGELHLEIYAQRLEREYGCPC
Mouse EDPTFKVHFDPESKETIVSG MGELHLEIYAQRMEREYGCPC
Rat EDPTFKVHFDTESKETIVSG MGELHLEIYAQRMEREYGCPC
Xenopus laevis EDPTFRVHYEVESKETIVSG MGELHLEIYAQRMEREYACPC
Zebrafish EDPTFRVHFDTESKETIISG MGELHLEIYSQRMEREYSCPC
Caenorhabditis elegans EDPTFRREYNQEAKETIVSG MGELHLEIYAQRMKSEYNCPV
Drosophila EDPTFHFFFDNDVKETLVSG MGELHLEIYAQRMEREYGCPV
Slime mold EDPTFRVKSDQESGQIIISG MGELHLEIYVERMKREYNVET
Baker's yeast EDPTFRVKFDPESKETIISG MGELHLEIYVERMRREYNVDC
Fission yeast EDPTFRVQLDNESKETIISG MGELHLEVYVERMRREYKVDC
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
37 – 751 Elongation factor G, mitochondrial
Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu.
Valente L.; Tiranti V.; Marsano R.M.; Malfatti E.; Fernandez-Vizarra E.; Donnini C.; Mereghetti P.; De Gioia L.; Burlina A.; Castellan C.; Comi G.P.; Savasta S.; Ferrero I.; Zeviani M.;
Am. J. Hum. Genet. 80:44-58(2007)
Cited for: VARIANT COXPD1 ARG-496;
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