Results for the protein: Q9BT22

Results for the Protein: Q9BT22

73921663

56052

ALG1

NCBI, UniProt

ALG1_HUMAN RecName: Full=Chitobiosyldiphosphodolichol beta-mannosyltransferase; AltName: Full=Asparagine-linked glycosylation protein 1 homolog; AltName: Full=Beta-1,4-mannosyltransferase; AltName: Full=GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase; AltName: Full=GDP-mannose-dolichol diphosphochitobiose mannosyltransferase; AltName: Full=Mannosyltransferase-1; Short=MT-1; Short=hMat-1

Known Diseases associated with this Protein:
CONGENITAL DISORDER OF GLYCOSYLATION 1K (CDG1K)
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK

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Tips:

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Default View: RfaG - COG0438 GT1_ALG1_like - cd03816 GT1_YqgM_like - cd03801 GT1_wbuB_like - cd03794 Glycosyltransferase_ - cd01635	Swiss-Prot Protein: Q9BT22 Identical to: NP_061982 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
GT1_YqgM_like	cd03801	4e-05	30	461
GT1_ALG1_like	cd03816	3.7e-282	30	461
GT1_wbuB_like	cd03794	0.00015	34	450
Glycosyltransferase_	cd01635	8.7e-17	36	410

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs16835020	Polymorphism	p.ARG438TRP	N/A
dbSNP	rs9745522	Polymorphism	p.ASP429GLU	N/A
Swiss-Prot	VAR_038427	Polymorphism	p.GLN455ARG	N/A
Swiss-Prot	VAR_023366	Disease	p.GLN342PRO	Congenital disorder of glycosylation 1K (CDG1K)
dbSNP	rs61745616	Polymorphism	p.GLU224ASP	N/A
Swiss-Prot	VAR_038426	Polymorphism	p.LEU325MET	N/A
dbSNP	rs61745602	Polymorphism	p.MET240ILE	N/A
dbSNP	rs113219939	Polymorphism	p.MET112LEU	N/A
dbSNP	rs112668461	Polymorphism	p.PHE185CYS	N/A
Swiss-Prot	VAR_023364	Disease	p.SER150ARG	Congenital disorder of glycosylation 1K (CDG1K)
dbSNP	rs17849848	Polymorphism	p.SER267ASN	N/A
Swiss-Prot	VAR_023365	Disease	p.SER258LEU	Congenital disorder of glycosylation 1K (CDG1K)
OMIM	605907.0007	Disease	p.ARG276TRP	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik
OMIM	605907.0006	Disease	p.CYS396TER	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik
OMIM	605907.0002	Disease	p.GLU342PRO	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik
OMIM	605907.0005	Disease	p.GLY145ASP	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik
OMIM	605907.0004	Disease	p.MET377VAL	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik
OMIM	605907.0003	Disease	p.SER150ARG	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik
OMIM	605907.0001	Disease	p.SER258LEU	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik

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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