Variant position: 175 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 563 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 HPYQLPQALAPHVD--FVGGLH RFPPTSSLRQRPEP-QVTGTVG
Chimpanzee HPYQLPQALAPHVD--FVGGLH RFPPTSSLRQRPEP-QVTG
Mouse HPYQLPQALAPHVD--FVGGLH RFPPSS-PRQRPEP-QQVG
Rat HPYQLPQALAPHVD--LVAGLH RFPPLSSPRQRPEP-QGVG
Bovine HPYRLPKALAPHVD--FVGGLH RFPPTSTLRQHPEP-QVPG
Zebrafish SQYSVHEDVHQHLD--FVGGVH RFPQKRKIVSKGWEGARQA
Slime mold DPYTIPRELYDHID--FIGGVN HLPLLS-------P-RPKE
Baker's yeast Q-----------------GGVI TVPRTS-------------
Fission yeast SLFLVPQLIRNKIDDAVIGFYH HHPFPSSEIARCFP-RRRA
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
20 – 195 Removed in mature form
1 – 243 Missing. In isoform 2.
Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis.
Sleat D.E.; Donnelly R.J.; Lackland H.; Liu C.-G.; Sohar I.; Pullarkat R.K.; Lobel P.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); PARTIAL PROTEIN SEQUENCE; VARIANTS CLN2 ARG-365 AND TYR-365; VARIANT HIS-175;
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