Variant position: 1004 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1278 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 PEGKQRPQGGDFMRFLPMFL SDNPNPKCGKGGHAAYSSAVN
Mouse PEGKQRPQGKEFMKFLPMFL SDNPNPKCGKGGHAAYGSAVN
Pig SEGKQRPQGEDFMRFLPMFL SDNPNPKCGKGGHAAYSSAVN
Caenorhabditis elegans SIMYHRPSIEVFYRHLRHFL EDTPNSECVFGGRASFKDAIS
Baker's yeast YNMSGFPEGKDFMEYLSIWI -NAPSDPCPLGGRAPYSTALV
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.
Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1.
Sun X.; Marks D.L.; Park W.D.; Wheatley C.L.; Puri V.; O'Brien J.F.; Kraft D.L.; Lundquist P.A.; Patterson M.C.; Pagano R.E.; Snow K.;
Am. J. Hum. Genet. 68:1361-1372(2001)
Cited for: VARIANTS NPC1 ARG-92; MET-137; SER-237; ASN-242; VAL-248; THR-401; GLN-404; ASP-612; TRP-652; CYS-789; CYS-825; VAL-874; SER-888; PRO-929; LEU-940; ASN-944; ASN-948; GLN-958; ARG-976; CYS-978; LEU-1004; ALA-1007; GLY-1023; THR-1061; LYS-1089; THR-1142; LYS-1150; SER-1156; MET-1165; HIS-1186 AND GLY-1189;
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