Variant position: 289 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 336 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 RERRELRRRTILLLYYLLRS PFYDRFSEARILFLLQLLADH
Mouse RERLELRRRTILLLYYLLRS PFYDRFSEAKILFLLQLLTDH
Bovine RERLELRRRTILLLYYLLRS PFYDRFSEAKILFLLQLLADH
Xenopus laevis RERIELRRRMFLLLYYLLRS PFYNNYTETRLLLLLRLLGDY
Xenopus tropicalis RERAELRRRMFLLLYYLLRS PFYNHYTETRLLLLLRLLGDY
Zebrafish RERAEMRRRAFLLLYYLLRS PFYDRYSETKILFLLRFLADY
Slime mold LEAKELNRRKKLLFFYLIRS PFYEKFIGDGLLNKFLNFLKK
Fission yeast ERRTNQSQFQHFVVWAFTQG RFYDEFTK-HWINRSLSWVNS
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 – 336 Peroxisomal membrane protein PEX16
132 – 336 Cytoplasmic
221 – 336 Interaction with PEX19
Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene.
Ebberink M.S.; Csanyi B.; Chong W.K.; Denis S.; Sharp P.; Mooijer P.A.; Dekker C.J.; Spooner C.; Ngu L.H.; De Sousa C.; Wanders R.J.; Fietz M.J.; Clayton P.T.; Waterham H.R.; Ferdinandusse S.;
J. Med. Genet. 47:608-615(2010)
Cited for: VARIANTS PBD8B VAL-252 DEL; THR-289 AND CYS-331;
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