Results for the protein: Q9Y2E5

Results for the Protein: Q9Y2E5

296439484

23324

MAN2B2

NCBI, UniProt

MA2B2_HUMAN RecName: Full=Epididymis-specific alpha-mannosidase; AltName: Full=Mannosidase alpha class 2B member 2; Flags: Precursor

			0 13 0 11 2

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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: Q9Y2E5 Identical to: NP_056089 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Alpha-mann_mid	pfam09261	4.1e-25	356	439
Alpha-mann_mid	smart00872	2.8e-28	357	439
Glyco_hydro_38C	pfam07748	5.9e-109	475	1002

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_055840	Polymorphism	p.ARG365CYS	N/A
dbSNP	rs61733399	Polymorphism	p.ARG681HIS	N/A
dbSNP	rs6858328	Polymorphism	p.ARG365SER	N/A
dbSNP	rs2301788	Polymorphism	p.ASN541SER	N/A
dbSNP	rs2301796	Polymorphism	p.GLN243PRO	N/A
dbSNP	rs61733402	Polymorphism	p.GLY624ARG	N/A
dbSNP	rs78413540	Polymorphism	p.LEU961PHE	N/A
dbSNP	rs2301790	Polymorphism	p.MET446LEU	N/A
dbSNP	rs61733400	Polymorphism	p.MET671LYS	N/A
Swiss-Prot	VAR_025330	Polymorphism	p.MET446VAL	N/A
dbSNP	rs61729241	Polymorphism	p.THR892MET	N/A
dbSNP	rs61729247	Polymorphism	p.TYR676HIS	N/A
dbSNP	rs2301795	Polymorphism	p.VAL320MET	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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