Variant position: 521 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 DDFFVYAD---------------YHTHFLYCVRAP ASLNDTSLLHDPCLGTFGGPV
Mouse DDFYIYAD---------------YHTHFLYCVRAP ASLNDT
Pig DFFFVYAD---------------YHTHFLYCVRAP ASLNDA
Caenorhabditis elegans KEETVSEDDDAFDYFSSEATTDEWMNHMAACIDQP MSQKTK
Baker's yeast -----------------------WKRELQECGKFP VN----
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
372 – 620 Lumenal
524 – 524 N-linked (GlcNAc...)
519 – 586 Missing. In isoform 2.
Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1.
Park W.D.; O'Brien J.F.; Lundquist P.A.; Kraft D.L.; Vockley C.W.; Karnes P.S.; Patterson M.C.; Snow K.;
Hum. Mutat. 22:313-325(2003)
Cited for: VARIANTS NPC1 TYR-74; SER-166; SER-222; TYR-247; PHE-380; PRO-388; CYS-389; TRP-404; LEU-433; SER-509; SER-521; LEU-543; CYS-615; ARG-640; SER-660; MET-664; VAL-673; PHE-684; LEU-691; VAL-695; ASN-700; ILE-734; LYS-742; GLU-745; VAL-767; GLY-789; ASN-945; ARG-1016; GLN-1059; LEU-1087; ILE-1137; VAL-1140; LYS-1205 AND GLY-1249; VARIANTS ARG-215; SER-237; SER-434 AND GLN-1266;
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.