Results for the protein: P04066

Results for the Protein: P04066

156631012

2517

FUCA1

NCBI, UniProt

FUCO_HUMAN RecName: Full=Tissue alpha-L-fucosidase; AltName: Full=Alpha-L-fucosidase I; AltName: Full=Alpha-L-fucoside fucohydrolase 1; Short=Alpha-L-fucosidase 1; Flags: Precursor

Known Diseases associated with this Protein:
FUCOSIDOSIS
FUCOSIDOSIS (FUCA1D)

9

6

6

3

6

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Default View: Alpha_L_fucos - pfam01120 Alpha_L_fucos - smart00812 COG3669 - COG3669	Swiss-Prot Protein: P04066 Identical to: NP_000138 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
COG3669	COG3669	7.6e-26	63	463
Alpha_L_fucos	smart00812	1.1e-228	31	413

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs2070955	Polymorphism	p.ARG2TRP	N/A
Swiss-Prot	VAR_016234	Polymorphism	p.CYS269SER	N/A
dbSNP	rs13551	Polymorphism	p.GLN286ARG	N/A
Swiss-Prot	VAR_002442	Disease	p.GLY65ASP	Fucosidosis (FUCA1D)
Swiss-Prot	VAR_016235	Disease	p.LEU410ARG	Fucosidosis (FUCA1D)
dbSNP	rs2070956	Polymorphism	p.PRO10ARG	N/A
Swiss-Prot	VAR_049107	Polymorphism	p.PRO146LEU	N/A
Swiss-Prot	VAR_002443	Disease	p.SER68LEU	Fucosidosis (FUCA1D)
Swiss-Prot	VAR_049108	Polymorphism	p.VAL260ILE	N/A
OMIM	612280.0001	Disease	p.GLN351TER	FUCOSIDOSIS
OMIM	612280.0005	Disease	p.GLN77TER	FUCOSIDOSIS
OMIM	612280.0003	Disease	p.GLU375TER	FUCOSIDOSIS
OMIM	612280.0012	Disease	p.LEU405ARG	FUCOSIDOSIS
OMIM	612280.0006	Disease	p.TRP382TER	FUCOSIDOSIS
OMIM	612280.0007	Disease	p.TYR211TER	FUCOSIDOSIS

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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