Variant position: 224 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 FNASTQPAYLRLISNYGTHF IRAVELGGRISALTALRTCEL
Mouse FNSSTEHAYHRLISSYGTHF ITAVDLGGRISVLTALRTCQL
Rat FNSSTEHAYRRLISSYGTHF ITAVDLGGRVSVLTALRTCQL
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
Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis.
Goeransdotter Ericson K.; Fadeel B.; Nilsson-Ardnor S.; Soederhaell C.; Samuelsson A.; Janka G.; Schneider M.; Guergey A.; Yalman N.; Revesz T.; Egeler R.; Jahnukainen K.; Storm-Mathiesen I.; Haraldsson A.; Poole J.; de Saint Basile G.; Nordenskjoeld M.; Henter J.-I.;
Am. J. Hum. Genet. 68:590-597(2001)
Cited for: VARIANTS FHL2 MET-50; ASN-224 AND LYS-285 DEL;
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