Variant position: 399 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 TISEGSPSPRIELLHNIDPN FVDSSP--CPRNSMAPAKDDSSL
Mouse TISEGHPSPRVELLHNIDQD FFDGLP--CPGKNMTPAKDDS
Rat TISEGSPSPRVELLLNIDPD FFDGLP--CPGKNTTPEKNDS
Cat TISEGSPSPRKELLHNIDPN FVDISP--CPGKSLAPAKDDS
Slime mold DITDIINSVDWELLL----- FFSGLFVLVEGFDRQFEKEAW
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.
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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