Variant position: 384 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 HTNGTKPLDGFDVW-----KTISEG SPSPRIELLHNIDPNFVDSSP--
Mouse STNGTKPLDGFNMW-----KTISEG HPSPRVELLHNIDQDF
Rat STHGTKPLDGFDVW-----ETISEG SPSPRVELLLNIDPDF
Cat STKGTKPLDGFDVW-----KTISEG SPSPRKELLHNIDPNF
Slime mold MHMGFTVLFGVSILMICERKDITDI INSVDWELLL-----F
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
366 – 366 N-linked (GlcNAc...) asparagine
117 – 521
Mutational analysis of mucopolysaccharidosis type VI patients undergoing a trial of enzyme replacement therapy.
Karageorgos L.; Harmatz P.; Simon J.; Pollard A.; Clements P.R.; Brooks D.A.; Hopwood J.J.;
Hum. Mutat. 23:229-233(2004)
Cited for: VARIANTS MPS6 TYR-86 DEL; CYS-210; PRO-236; CYS-312; GLN-315; PRO-321 AND GLY-484; VARIANTS MET-358; MET-376 AND ASN-384; CHARACTERIZATION OF VARIANTS MPS6 TYR-86 DEL AND CYS-312;
Segregation analysis in a family at risk for the Maroteaux-Lamy syndrome conclusively reveals c.1151G>A (p.S384N) as to be a polymorphism.
Zanetti A.; Ferraresi E.; Picci L.; Filocamo M.; Parini R.; Rosano C.; Tomanin R.; Scarpa M.;
Eur. J. Hum. Genet. 17:1160-1164(2009)
Cited for: VARIANTS MPS6 ARG-82 AND GLN-315; VARIANT ASN-384;
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