Variant position: 239 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 AIALITNHPPEKPLFLYL--AL QSVHEPLQVPEEYLKPYDFIQ
Mouse ATTVIANHPPEKPLFLYL--AF QSVHDPLQVPEEYMEPYGF
Rat ATTLIANHPPEKPLFLYL--AF QSVHDPLQVPEEYMEPYDF
Cat ATALITSHPPEKPLFLYL--AL QSVHEPLQVPEEYLKPYDF
Slime mold VSSILGVCLNTILLLLYFKKDL KNLNSNFNQLIETVNPKVE
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.
A novel mutation (Q239R) identified in a Taiwan Chinese patient with type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome).
Wu J.-Y.; Yang C.-F.; Lee C.-C.; Chang J.-G.; Tsai F.-J.;
Hum. Mutat. 15:389-390(2000)
Cited for: VARIANTS MPS6 ARG-192 AND ARG-239;
Mucopolysaccharidosis type VI: report of two Taiwanese patients and identification of one novel mutation.
Yang C.-F.; Wu J.-Y.; Lin S.-P.; Tsai F.-J.;
J. Formos. Med. Assoc. 100:820-823(2001)
Cited for: VARIANTS MPS6 ARG-192; ARG-239 AND LEU-399; VARIANT MET-358;
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