Variant position: 336 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 374 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 LNPKGPPSGKDRVKKGGSYM CHRSYCYRYRCAARSQNTPDS
Mouse FNPKGPTSGKDRVKKGGSYM CHKSYCYRYRCAARSQNTPDS
Bovine INPKGPPSGKDRVKKGGSYM CHKSYCYRYRCAARSQNTPDS
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
34 – 374 Formylglycine-generating enzyme
336 – 336 Copper(2+); catalytic
341 – 341 Copper(2+); catalytic
218 – 365
235 – 346
319 – 338 Missing. In isoform 5.
333 – 333 S -> A. Loss of activity.
333 – 333 S -> T. Reduces activity by 99%.
336 – 336 C -> S. Loss of activity.
337 – 337 H -> A. Reduces activity 5-fold.
340 – 340 Y -> F. No effect.
341 – 341 C -> S. Loss of activity.
Multiple sulfatase deficiency is caused by mutations in the gene encoding the Homo sapiens C-alpha-formyglycine-generating enzyme.
Dierks T.; Schmidt B.; Borissenko L.V.; Peng J.; Preusser A.; Mariappan M.; von Figura K.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS MSD VAL-279; ARG-336; GLN-349 AND TRP-349; VARIANT ASN-63;
The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases.
Cosma M.P.; Pepe S.; Annunziata I.; Newbold R.F.; Grompe M.; Parenti G.; Ballabio A.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS MSD PRO-155; TYR-218; ARG-336; CYS-345; PRO-348; GLN-349 AND TRP-349; FUNCTION;
Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency.
Cosma M.P.; Pepe S.; Parenti G.; Settembre C.; Annunziata I.; Wade-Martins R.; Domenico C.D.; Natale P.D.; Mankad A.; Cox B.; Uziel G.; Mancini G.M.; Zammarchi E.; Donati M.A.; Kleijer W.J.; Filocamo M.; Carrozzo R.; Carella M.; Ballabio A.;
Hum. Mutat. 23:576-581(2004)
Cited for: VARIANTS MSD PHE-20; PRO-177; TRP-224; ILE-259 AND LEU-266; CHARACTERIZATION OF VARIANTS MSD PHE-20; PRO-155; PRO-177; TYR-218; TRP-224; ILE-259; LEU-266; VAL-279; ARG-336; CYS-345; PRO-348; TRP-349 AND GLN-349;
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.