Variant position: 429 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 868 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 SGDTVPQSILTKSRSVIEQG GIQTVDQLIKELPELLQRNRE
Mouse SGDTVPQSILTKSTSVVEQG GIQTVDQLIKELPELLQRNRE
Rat SGDTVPQSILTKSTAVVEQG GIQTVDQLIKELPELLQRNRE
Xenopus laevis SGDSIPQSILNKSKTVIEQG GIQTIGQLIRDLPELLQRNKE
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
2 – 868 Programmed cell death 6-interacting protein
176 – 868 Interaction with EIAV p9
176 – 503 Interaction with CHMP4A, CHMP4B and CHMP4C
418 – 868 Interaction with SDCBP
272 – 868 Missing. In isoform 3.
427 – 429
Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis.
Benitez B.A.; Alvarado D.; Cai Y.; Mayo K.; Chakraverty S.; Norton J.; Morris J.C.; Sands M.S.; Goate A.; Cruchaga C.;
PLoS ONE 6:E26741-E26741(2011)
Cited for: VARIANT SER-429;
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