Variant position: 225 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 555 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 NASTQPAYLRLISNYGTHFI RAVELGGRISALTALRTCELA
Mouse NSSTEHAYHRLISSYGTHFI TAVDLGGRISVLTALRTCQLT
Rat NSSTEHAYRRLISSYGTHFI TAVDLGGRVSVLTALRTCQLT
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
22 – 555 Perforin-1
27 – 375 MACPF
214 – 214 Important for oligomerization
205 – 205 N-linked (GlcNAc...) asparagine
Perforin gene defects in familial hemophagocytic lymphohistiocytosis.
Stepp S.E.; Dufourcq-Lagelouse R.; Le Deist F.; Bhawan S.; Certain S.; Mathew P.A.; Henter J.-I.; Bennett M.; Fischer A.; de Saint Basile G.; Kumar V.;
Cited for: VARIANTS FHL2 GLY-183; TRP-225; SER-252; TYR-279; LEU-345 AND GLU-429;
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