Results for the protein: P49641

Results for the Protein: P49641

347595795

4122

MAN2A2

NCBI, UniProt

MA2A2_HUMAN RecName: Full=Alpha-mannosidase 2x; AltName: Full=Alpha-mannosidase IIx; Short=Man IIx; AltName: Full=Mannosidase alpha class 2A member 2; AltName: Full=Mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase

			0 7 0 7 0

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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: P49641 Identical to: NP_006113 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Alpha-mann_mid	pfam09261	1.5e-34	502	588
Alpha-mann_mid	smart00872	1.2e-37	503	588
Glyco_hydro_38C	pfam07748	4.2e-131	648	1145

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs75662088	Polymorphism	p.ALA620VAL	N/A
dbSNP	rs52828316	Polymorphism	p.ARG1039HIS	N/A
dbSNP	rs2106673	Polymorphism	p.GLN412ARG	N/A
dbSNP	rs74039150	Polymorphism	p.LEU720ILE	N/A
dbSNP	rs1266494	Polymorphism	p.SER665PHE	N/A
dbSNP	rs28446956	Polymorphism	p.THR93ARG	N/A
dbSNP	rs12909056	Polymorphism	p.VAL995MET	N/A

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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