Variant position: 195 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 504 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 LYELKNTITVSPFSGESDIC PQD-SSTNIHELRVTNTSIQFN
Mouse LYELKNTITVSPFSGESDIC PQD-SSTNIHELRVTNTSIQF
Rat LYELKNTITVSPFSGESDIC PQD-SSTNIHELRITNTSIQF
Bovine LYELKNTITVSPFSGESDIC PQD-SSTNIHELRVTNTSIQF
Caenorhabditis elegans IYD-EHTVTVSPFSGESDIC PPDWDSGSMLGVDFNGTSIRF
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 – 504 Patatin-like phospholipase domain-containing protein 2
30 – 504 Lumenal
1 – 324 Missing. In isoform 2.
The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy.
Fischer J.; Lefevre C.; Morava E.; Mussini J.-M.; Laforet P.; Negre-Salvayre A.; Lathrop M.; Salvayre R.;
Nat. Genet. 39:28-30(2007)
Cited for: VARIANT NLSDM LEU-195;
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