Variant position: 248 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 DESVDEVTAP-CSCQDCSIVC GPKPQPPPPPA----PWTILGLDAM
Mouse NESVDEVTGP-CSCQDCSIVC GPKPQPPPPPM----PWRIW
Pig DESVDEVTGP-CSCQDCSIVC GPKPQPPPPPV----PWRIL
Caenorhabditis elegans DKS-ARVGWPACSTSECNKEE YANLIDLDDGKTSGQTCNVH
Baker's yeast DDAQYK-----CACSDCQESC -PHLKPLKDGV-----CKVG
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
23 – 1278 Niemann-Pick C1 protein
23 – 269 Lumenal
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;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.