Results for the protein: Q8NBK3

Results for the Protein: Q8NBK3

62298562

285362

SUMF1

NCBI, UniProt

SUMF1_HUMAN RecName: Full=Sulfatase-modifying factor 1; AltName: Full=C-alpha-formylglycine-generating enzyme 1; Flags: Precursor

Known Diseases associated with this Protein:
MULTIPLE SULFATASE DEFICIENCY
MULTIPLE SULFATASE DEFICIENCY (MSD)

25

1

11

1

14

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Default View: COG1262 - COG1262 FGE-sulfatase - pfam03781	Swiss-Prot Protein: Q8NBK3 Identical to: NP_877437 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
FGE-sulfatase	pfam03781	1.8e-123	87	367

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_019051	Disease	p.ALA177PRO	Multiple sulfatase deficiency (MSD)
Swiss-Prot	VAR_016058	Disease	p.ALA348PRO	Multiple sulfatase deficiency (MSD)
Swiss-Prot	VAR_016055	Disease	p.ALA279VAL	Multiple sulfatase deficiency (MSD)
Swiss-Prot	VAR_016057	Disease	p.ARG345CYS	Multiple sulfatase deficiency (MSD)
Swiss-Prot	VAR_016059	Disease	p.ARG349GLN	Multiple sulfatase deficiency (MSD)
Swiss-Prot	VAR_019052	Disease	p.ARG224TRP	Multiple sulfatase deficiency (MSD)
Swiss-Prot	VAR_016060	Disease	p.ARG349TRP	Multiple sulfatase deficiency (MSD)
Swiss-Prot	VAR_019053	Disease	p.ASN259ILE	Multiple sulfatase deficiency (MSD)
Swiss-Prot	VAR_016056	Disease	p.CYS336ARG	Multiple sulfatase deficiency (MSD)
Swiss-Prot	VAR_016054	Disease	p.CYS218TYR	Multiple sulfatase deficiency (MSD)
Swiss-Prot	VAR_019050	Disease	p.LEU20PHE	Multiple sulfatase deficiency (MSD)
Swiss-Prot	VAR_019054	Disease	p.PRO266LEU	Multiple sulfatase deficiency (MSD)
dbSNP	rs2819590	Polymorphism	p.SER63ASN	N/A
Swiss-Prot	VAR_016053	Disease	p.SER155PRO	Multiple sulfatase deficiency (MSD)
Swiss-Prot	VAR_042602	Disease	p.TRP179SER	Multiple sulfatase deficiency (MSD)
OMIM	607939.0014	Disease	p.ALA348PRO	MULTIPLE SULFATASE DEFICIENCY
OMIM	607939.0007	Disease	p.ALA279VAL	MULTIPLE SULFATASE DEFICIENCY
OMIM	607939.0013	Disease	p.ARG345CYS	MULTIPLE SULFATASE DEFICIENCY
OMIM	607939.0005	Disease	p.ARG349GLN	MULTIPLE SULFATASE DEFICIENCY
OMIM	607939.0003	Disease	p.ARG327TER	MULTIPLE SULFATASE DEFICIENCY
OMIM	607939.0004	Disease	p.ARG349TRP	MULTIPLE SULFATASE DEFICIENCY
OMIM	607939.0006	Disease	p.CYS336ARG	MULTIPLE SULFATASE DEFICIENCY
OMIM	607939.0015	Disease	p.CYS218TYR	MULTIPLE SULFATASE DEFICIENCY
OMIM	607939.0018	Disease	p.GLY263VAL	MULTIPLE SULFATASE DEFICIENCY
OMIM	607939.0010	Disease	p.SER155PRO	MULTIPLE SULFATASE DEFICIENCY
OMIM	607939.0002	Disease	p.SER359TER	MULTIPLE SULFATASE DEFICIENCY

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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