Results for the protein: Q9NTJ4

Results for the Protein: Q9NTJ4

27923805

4123

MAN2C1

NCBI, UniProt

MA2C1_HUMAN RecName: Full=Alpha-mannosidase 2C1; AltName: Full=Alpha mannosidase 6A8B; AltName: Full=Alpha-D-mannoside mannohydrolase; AltName: Full=Mannosidase alpha class 2C member 1

			0 5 0 1 4

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Default View: Alpha-mann_mid - pfam09261 Alpha-mann_mid - smart00872 Glyco_hydro_38C - pfam07748	Swiss-Prot Protein: Q9NTJ4 Identical to: NP_006706 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Alpha-mann_mid	smart00872	6.4e-37	518	596
Glyco_hydro_38C	pfam07748	4.2e-137	622	1031

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_069180	Polymorphism	p.ARG323CYS	N/A
Swiss-Prot	VAR_061192	Polymorphism	p.ARG818HIS	N/A
Swiss-Prot	VAR_049212	Polymorphism	p.ARG975LYS	N/A
dbSNP	rs3803466	Polymorphism	p.VAL960ILE	N/A
Swiss-Prot	VAR_049211	Polymorphism	p.VAL950MET	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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