Variant position: 1088 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 TMGINGSAYRVFPYSVFYVF YEQYLTIIDDTIFNLGVSLGA
Mouse TMRSKGSDYRVFPYSVFYVF YEQYLTIIDDTIFNLSVSLGS
Pig TMGLEASSYRVFPYSVFYVF YEQYLTVIDDTIFNLGVSLGA
Caenorhabditis elegans SIDDT---AHVFAYSKIFPF YEQYSTIMPILTTQLFITVVG
Baker's yeast --------LDMFAYSPFYIF FVQYQTLGPLTLKLIGSAIIL
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.
Genotype-phenotype relationship of Niemann-Pick disease type C: a possible correlation between clinical onset and levels of NPC1 protein in isolated skin fibroblasts.
Yamamoto T.; Ninomiya H.; Matsumoto M.; Ohta Y.; Nanba E.; Tsutsumi Y.; Yamakawa K.; Millat G.; Vanier M.T.; Pentchev P.G.; Ohno K.;
J. Med. Genet. 37:707-712(2000)
Cited for: VARIANTS NPC1 GLY-177; SER-237; PRO-473; PRO-510; GLN-518; SER-703; MET-889; LEU-954; TYR-956; ARG-996; THR-1061; CYS-1088; ARG-1205; PHE-1213 AND GLU-1236; VARIANT ALA-873;
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.