Variant position: 521 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 RLQFYHKHSVPVYFPAQDPR CDPKATGVWGPWM-----
Mouse RLQYYHEHSVPSHFPPLDPR CDPKSTGVWSPWM
Rat RLQYYHEHSVPSYFPPLDPR CDPKGTGVWSPWM
Cat RLQFYHKHSVPVHFPAQDPR CDPKGTGAWGPWV
Slime mold KSKSYHEIGFLEYLKFGVP- STILVILIGVPIV
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
37 – 533 Arylsulfatase B
117 – 521
405 – 533 CPRNSMAPAKDDSSLPEYSAFNTSVHAAIRHGNWKLLTGYPGCGYWFPPPSQYNVSEIPSSDPPTKTLWLFDIDRDPEERHDLSREYPHIVTKLLSRLQFYHKHSVPVYFPAQDPRCDPKATGVWGPWM -> YWPECSLLL. In isoform 2.
519 – 521
Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): six unique arylsulfatase B gene alleles causing variable disease phenotypes.
Isbrandt D.; Arlt G.; Brooks D.A.; Hopwood J.J.; von Figura K.; Peters C.;
Am. J. Hum. Genet. 54:454-463(1994)
Cited for: VARIANTS MPS6 ARG-144; ARG-192; PRO-321 AND TYR-521; CHARACTERIZATION OF VARIANTS MPS6;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.