Sequence information
Variant position: 94 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 552 The length of the canonical sequence.
Location on the sequence:
IGEMGMTFSSAYVPSALCCP
S RASILTGKYPHNHHVVNNTL
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 IGEMGMTFSSAYVPSALCCPS RASILTGKYPHNHHVVNNTL
Mouse IGEKGMTFSSAYVPSALCCPS RASILTGKYPHNHHVVNNTL
Bovine IGEMGMTFSSAYVPSALCCPS RASILTGKYPHNLHVVNNTL
Goat IGEMGMTFSSAYVPSALCCPS RASILTGKYPHNHHVVNNTL
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
Chain
37 – 552
N-acetylglucosamine-6-sulfatase
Active site
91 – 91
Nucleophile
Metal binding
91 – 91
Calcium; via 3-oxoalanine
Modified residue
91 – 91
3-oxoalanine (Cys)
Glycosylation
111 – 111
N-linked (GlcNAc...) asparagine
Literature citations
Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations.
Valstar M.J.; Bertoli-Avella A.M.; Wessels M.W.; Ruijter G.J.G.; de Graaf B.; Olmer R.; Elfferich P.; Neijs S.; Kariminejad R.; Suheyl Ezgue F.; Tokatli A.; Czartoryska B.; Bosschaart A.N.; van den Bos-Terpstra F.; Puissant H.; Buerger F.; Omran H.; Eckert D.; Filocamo M.; Simeonov E.; Willems P.J.; Wevers R.A.; Niermeijer M.F.; Halley D.J.J.; Poorthuis B.J.H.M.; van Diggelen O.P.;
Hum. Mutat. 31:E1348-E1360(2010)
Cited for: VARIANTS MPS3D ILE-94; 304-GLU--LEU-306 DEL; ARG-340 AND GLU-418;
Disclaimer:
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.