Results for the protein: O00754

Results for the Protein: O00754

118574274

4125

MAN2B1

NCBI, UniProt

MA2B1_HUMAN RecName: Full=Lysosomal alpha-mannosidase; Short=Laman; AltName: Full=Lysosomal acid alpha-mannosidase; AltName: Full=Mannosidase alpha class 2B member 1; AltName: Full=Mannosidase alpha-B; Contains: RecName: Full=Lysosomal alpha-mannosidase A peptide; Contains: RecName: Full=Lysosomal alpha-mannosidase B peptide; Contains: RecName: Full=Lysosomal alpha-mannosidase C peptide; Contains: RecName: Full=Lysosomal alpha-mannosidase D peptide; Contains: RecName: Full=Lysosomal alpha-mannosidase E peptide; Flags: Precursor

Known Diseases associated with this Protein:
ALPHA-MANNOSIDOSIS
MANNOSIDOSIS, ALPHA B, LYSOSOMAL (MANSA)

46

11

6

6

45

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Default View: Glyco_hydro_38 - pfam01074 Alpha-mann_mid - pfam09261 Alpha-mann_mid - smart00872 Glyco_hydro_38C - pfam07748	Swiss-Prot Protein: O00754 Identical to: NP_000519 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Alpha-mann_mid	pfam09261	8.2e-26	386	465
Alpha-mann_mid	smart00872	1.5e-27	387	465
Glyco_hydro_38C	pfam07748	9.4e-151	510	1000

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_068036	Disease	p.ALA95PRO	Mannosidosis, alpha B, lysosomal (MANSA)
Swiss-Prot	VAR_049209	Polymorphism	p.ALA250SER	N/A
dbSNP	rs34544747	Polymorphism	p.ALA481SER	N/A
Swiss-Prot	VAR_068065	Disease	p.ARG916CYS	Mannosidosis, alpha B, lysosomal (MANSA)
dbSNP	rs1133330	Polymorphism	p.ARG337GLN	N/A
Swiss-Prot	VAR_068066	Disease	p.ARG916HIS	Mannosidosis, alpha B, lysosomal (MANSA)
Swiss-Prot	VAR_068041	Disease	p.ARG202PRO	Mannosidosis, alpha B, lysosomal (MANSA)
Swiss-Prot	VAR_068067	Disease	p.ARG950PRO	Mannosidosis, alpha B, lysosomal (MANSA)
Swiss-Prot	VAR_068042	Disease	p.ARG229TRP	Mannosidosis, alpha B, lysosomal (MANSA)
Swiss-Prot	VAR_003347	Disease	p.ARG750TRP	Mannosidosis, alpha B, lysosomal (MANSA)
dbSNP	rs35836657	Polymorphism	p.ASN413SER	N/A
Swiss-Prot	VAR_068038	Disease	p.ASP159ASN	Mannosidosis, alpha B, lysosomal (MANSA)
Swiss-Prot	VAR_068035	Disease	p.ASP74GLU	Mannosidosis, alpha B, lysosomal (MANSA)
Swiss-Prot	VAR_068034	Disease	p.CYS55PHE	Mannosidosis, alpha B, lysosomal (MANSA)
Swiss-Prot	VAR_068056	Disease	p.CYS501SER	Mannosidosis, alpha B, lysosomal (MANSA)
Swiss-Prot	VAR_003344	Polymorphism	p.GLU402LYS	N/A
dbSNP	rs61234887	Polymorphism	p.GLY741ARG	N/A
Swiss-Prot	VAR_068060	Disease	p.GLY800ARG	Mannosidosis, alpha B, lysosomal (MANSA)
Swiss-Prot	VAR_068063	Disease	p.GLY891ARG	Mannosidosis, alpha B, lysosomal (MANSA)
Swiss-Prot	VAR_026414	Disease	p.GLY801ASP	Mannosidosis, alpha B, lysosomal (MANSA)
Swiss-Prot	VAR_068050	Disease	p.GLY390CYS	Mannosidosis, alpha B, lysosomal (MANSA)
Swiss-Prot	VAR_068053	Disease	p.GLY451CYS	Mannosidosis, alpha B, lysosomal (MANSA)
Swiss-Prot	VAR_068061	Disease	p.GLY800TRP	Mannosidosis, alpha B, lysosomal (MANSA)
Swiss-Prot	VAR_068051	Disease	p.GLY420VAL	Mannosidosis, alpha B, lysosomal (MANSA)
Swiss-Prot	VAR_068040	Disease	p.HIS200ASN	Mannosidosis, alpha B, lysosomal (MANSA)
Swiss-Prot	VAR_026412	Disease	p.HIS200LEU	Mannosidosis, alpha B, lysosomal (MANSA)
Swiss-Prot	VAR_003338	Disease	p.HIS72LEU	Mannosidosis, alpha B, lysosomal (MANSA)
Swiss-Prot	VAR_068052	Disease	p.HIS445TYR	Mannosidosis, alpha B, lysosomal (MANSA)
Swiss-Prot	VAR_068068	Disease	p.LEU956ARG	Mannosidosis, alpha B, lysosomal (MANSA)
Swiss-Prot	VAR_068048	Disease	p.LEU352PRO	Mannosidosis, alpha B, lysosomal (MANSA)
Swiss-Prot	VAR_068057	Disease	p.LEU565PRO	Mannosidosis, alpha B, lysosomal (MANSA)
Swiss-Prot	VAR_003348	Disease	p.LEU809PRO	Mannosidosis, alpha B, lysosomal (MANSA)
Swiss-Prot	VAR_068064	Disease	p.LEU892PRO	Mannosidosis, alpha B, lysosomal (MANSA)
dbSNP	rs1054486	Polymorphism	p.LEU278VAL	N/A
Swiss-Prot	VAR_068069	Disease	p.PHE1000SER	Mannosidosis, alpha B, lysosomal (MANSA)
Swiss-Prot	VAR_068039	Disease	p.PRO197ARG	Mannosidosis, alpha B, lysosomal (MANSA)
Swiss-Prot	VAR_003343	Disease	p.PRO356ARG	Mannosidosis, alpha B, lysosomal (MANSA)
Swiss-Prot	VAR_068043	Polymorphism	p.PRO248LEU	N/A
Swiss-Prot	VAR_068044	Disease	p.PRO263LEU	Mannosidosis, alpha B, lysosomal (MANSA)
Swiss-Prot	VAR_068049	Disease	p.PRO379LEU	Mannosidosis, alpha B, lysosomal (MANSA)
Swiss-Prot	VAR_068058	Polymorphism	p.PRO669LEU	N/A
Swiss-Prot	VAR_068045	Polymorphism	p.PRO282SER	N/A
Swiss-Prot	VAR_068046	Disease	p.SER318LEU	Mannosidosis, alpha B, lysosomal (MANSA)
Swiss-Prot	VAR_068054	Disease	p.SER453PHE	Mannosidosis, alpha B, lysosomal (MANSA)
Swiss-Prot	VAR_026413	Disease	p.SER453TYR	Mannosidosis, alpha B, lysosomal (MANSA)
Swiss-Prot	VAR_068059	Disease	p.THR745ARG	Mannosidosis, alpha B, lysosomal (MANSA)
dbSNP	rs1054487	Polymorphism	p.THR312ILE	N/A
Swiss-Prot	VAR_003342	Disease	p.THR355PRO	Mannosidosis, alpha B, lysosomal (MANSA)
Swiss-Prot	VAR_003346	Disease	p.TRP714ARG	Mannosidosis, alpha B, lysosomal (MANSA)
Swiss-Prot	VAR_068037	Disease	p.TYR99HIS	Mannosidosis, alpha B, lysosomal (MANSA)
Swiss-Prot	VAR_068055	Disease	p.VAL457GLU	Mannosidosis, alpha B, lysosomal (MANSA)
OMIM	609458.0002	Disease	p.ARG760TER	ALPHA-MANNOSIDOSIS
OMIM	609458.0004	Disease	p.ARG750TRP	ALPHA-MANNOSIDOSIS
OMIM	609458.0003	Disease	p.GLN639TER	ALPHA-MANNOSIDOSIS
OMIM	609458.0001	Disease	p.HIS71LEU	ALPHA-MANNOSIDOSIS
OMIM	609458.0007	Disease	p.LEU809PRO	ALPHA-MANNOSIDOSIS
OMIM	609458.0005	Disease	p.PRO356ARG	ALPHA-MANNOSIDOSIS

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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