Variant position: 481 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 522 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 ISSLIPGPGETPSQFPPLRP RFDPVGPLPGPNPILPGRGGP
Mouse VTSLIPRPGELPGQFRPLRP RFDPVDPLPGPHSLLPGRAIP
Rat VTSLIPRPGEPPSQFRPVRP RFDPVGPLPGSNSLLPGRASP
Bovine INSLIPGPGETPSQFPPLRP RFDPVGPLPGPNPILPGRGGP
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 – 522 F-box only protein 7
381 – 522 Important for interaction with CDK6
481 – 484 RFDP motif
423 – 514 Pro-rich
Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability.
Santoro L.; Breedveld G.J.; Manganelli F.; Iodice R.; Pisciotta C.; Nolano M.; Punzo F.; Quarantelli M.; Pappata S.; Di Fonzo A.; Oostra B.A.; Bonifati V.;
Cited for: VARIANT CYS-481;
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