Variant position: 146 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 533 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 EKLLPQLLKEAGYTTHMVGK WHLGMYRKECLPTRRGFDTYF
Mouse EKLLPQLLKEAGYATHMVGK WHLGMYRKECLPTRRGFDTYF
Rat EKLLPQLLKDAGYATHMVGK WHLGMYRKECLPTRRGFDTYF
Cat EKLLPQLLKEAGYTTHMVGK WHLGMYRKECLPTRRGFDTYF
Slime mold RVCLISSIMSSILTNDTVCV TLTPIVISACKSTNL---TFF
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.
N-acetylgalactosamine-4-sulfatase: identification of four new mutations within the conserved sulfatase region causing mucopolysaccharidosis type VI.
Simonaro C.M.; Schuchman E.H.;
Biochim. Biophys. Acta 1272:129-132(1995)
Cited for: VARIANTS MPS6 ILE-142; ARG-146; LEU-146 AND SER-146;
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