Variant position: 376 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 TLVKLAR--------------------GHTNGTKPLDGFD VW-----KTISEGSPSPRIELLHNID
Mouse TLVDLAG--------------------GSTNGTKPLDGFN M
Rat TLVNLAG--------------------GSTHGTKPLDGFD V
Cat TLVKLAR--------------------GSTKGTKPLDGFD V
Slime mold TIVNIIKLIFKFRVAIILTLVLIGFFIGMHMGFTVLFGVS I
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
Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). An intermediate clinical phenotype caused by substitution of valine for glycine at position 137 of arylsulfatase B.
Wicker G.; Prill V.; Brooks D.A.; Gibson G.J.; Hopwood J.J.; von Figura K.; Peters C.;
J. Biol. Chem. 266:21386-21391(1991)
Cited for: VARIANT MPS6 VAL-137; VARIANT MET-376;
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;
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.