Variant position: 250 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 603 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 HPWLPSAMEGPTPVSALLHS STMVVAGIFLLIRFHPLAENS
Gorilla HPWLPSAMEGPTPVSALLHS STMVVAGVFLLIRFRHLAENN
Chimpanzee HPWLPSAMEGPTPVSALLHS STMVVAGIFLLIRFYPLAENN
Mouse HPWLPSAMEGPTPVSALLHS STMVVAGIFLLVRFHPLTTNN
Rat HPWLPSAMEGPTPVSALLHS STMVVAGIFLMIRFHPLTSNN
Pig HPWLPSAMEGPTPVSALLHS STMVVAGVFLLIRFYPLMETN
Bovine HPWLPSAMEGPTPVSALLHS STMVVAGIFLLIRFYPLTENN
Rabbit HPWLPSAMEGPTPVSALLHS STMVVAGVFLLIRFYPLLENN
Sheep HPWLPSAMEGPTPVSALLHS STMVVAGIFLLIRFYPLTENN
Cat HPWLPSAMEGPTPVSALLHS STMVVAGVFLLIRFYPLMEQN
Horse HPWLPSAMEGPTPVSALLHS STMVVAGVFLLIRFHPLMENN
Chicken HPWLPAAMEGPTPVSALLHS STMVVAGIFLLIRTHPFLSSN
Xenopus laevis HPWLPAAMEGPTPVSALLHS STMVVAGIFLLIRISPMMNNN
Zebrafish HPWLPSAMEGPTPVSALLHS STMVVAGIFLLIRLHPIMETN
Caenorhabditis elegans SSWLPKAMSAPTPVSSLVHS STLVTAGLILLMNFNNLVMQK
Drosophila SSWLPAAMAAPTPVSALVHS STLVTAGVYLLIRFNIILSTS
Slime mold HMWLPDAMEGPTPVSALLHA ATMVTAGVFLVLRTSPLLSYS
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
1 – 603 NADH-ubiquinone oxidoreductase chain 5
241 – 261 Helical
A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome.
Crimi M.; Galbiati S.; Moroni I.; Bordoni A.; Perini M.P.; Lamantea E.; Sciacco M.; Zeviani M.; Biunno I.; Moggio M.; Scarlato G.; Comi G.P.;
Cited for: VARIANT LS CYS-250;
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