Variant position: 734 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 RLQGETLDQ---QLGRVLGEVAP SMFLSSFSETVAFFLGALSVM
Mouse RLQEETLDQ---QLGRILGEVAP TMFLSSFSETSAFFFGAL
Pig RLQGETLDQ---QLGRVLGEVAP SMFLSSFSETVAFFLGGL
Caenorhabditis elegans SMPYMSPDQCPEIVGMVMAGTMP AMFSSSLGCAFSFFIGGF
Baker's yeast QKPEYSIDQ---KIISAIGRMSP SILMSLLCQTGCFLIAAF
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.
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;
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