Variant position: 971 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 KPQS-SCCRVD-NITDQFCN-----AS VVDPACVRCR---------PLTPEGKQRPQ
Mouse SPQS-SCCRLY-NVTHQFCN-----AS VMDPTCVRCR----
Pig KPQS-SCCRVY-NSTDQFCN-----AS VVDPTCIRCR----
Caenorhabditis elegans SRKS-PCCKVYVHDPNTFCSTNRNKSA LDDKACRTCMDFDY
Baker's yeast NPQNDQCCRLK-KGTDEVCP-----PS FPSRRCETCFQQG-
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
854 – 1098 Lumenal
961 – 961 N-linked (GlcNAc...) asparagine
968 – 968 N-linked (GlcNAc...) asparagine
969 – 971
NPC1: complete genomic sequence, mutation analysis, and characterization of haplotypes.
Bauer P.; Knoblich R.; Bauer C.; Finckh U.; Hufen A.; Kropp J.; Braun S.; Kustermann-Kuhn B.; Schmidt D.; Harzer K.; Rolfs A.;
Hum. Mutat. 19:30-38(2002)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS NPC1 ARG-512; TRP-670; CYS-825; ILE-849; VAL-874; TYR-948; LEU-954; LEU-958; ALA-1007 AND THR-1061; VARIANTS ARG-215; ILE-642; VAL-858; GLY-971 AND VAL-1049;
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.