Variant position: 170 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 176 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 PLHYRLAVVQCVAVIWNSYL SWKAHRL--------
Mouse PLHYRLAVVQCVAIVWNSYL SWKAHQF
Rat PLHYRLAVVQCVAVVWNSYL SWKAHQL
Bovine PLHYRLAVVQCVAVIWNSYL SWKAHRL
Xenopus laevis PLYHRLAVVQFVAIIWNSYL SWKANKS
Zebrafish PLHHRLAVVQIVAVVWNSYL SWKANKM
Caenorhabditis elegans PLNYRVILNQVVAFFWNCYL SYITQKP
Drosophila PLGYQVLYAQFIALVWNCYL SMILNS-
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 – 176 Protein Mpv17
Fluctuating liver functions in siblings with MPV17 mutations and possible improvement associated with dietary and pharmaceutical treatments targeting respiratory chain complex II.
Kaji S.; Murayama K.; Nagata I.; Nagasaka H.; Takayanagi M.; Ohtake A.; Iwasa H.; Nishiyama M.; Okazaki Y.; Harashima H.; Eitoku T.; Yamamoto M.; Matsushita H.; Kitamoto K.; Sakata S.; Katayama T.; Sugimoto S.; Fujimoto Y.; Murakami J.; Kanzaki S.; Shiraki K.;
Mol. Genet. Metab. 97:292-296(2009)
Cited for: VARIANT MTDPS6 PHE-170;
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