Results for the protein: Q2TAA5

Results for the Protein: Q2TAA5

156631015

440138

ALG11

NCBI, UniProt

ALG11_HUMAN RecName: Full=GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase; AltName: Full=Asparagine-linked glycosylation protein 11 homolog; AltName: Full=Glycolipid 2-alpha-mannosyltransferase

Known Diseases associated with this Protein:
CONGENITAL DISORDER OF GLYCOSYLATION 1P (CDG1P)
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IP

10

1

5

1

5

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Swiss-Prot Protein: Q2TAA5

Identical to: NP_001004127

Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
GT1_ALG11_like	cd03806	6.2e-292	63	482
RfaG	COG0438	2.8e-23	63	490
GT1_wbuB_like	cd03794	0.00026	64	484
GT1_YqgM_like	cd03801	1.7e-15	64	488
GT1_wbaZ_like	cd03804	4.3e-11	64	484
GT1_WabH_like	cd03811	2.5e-07	64	480
GT1_mtfB_like	cd03809	1.8e-07	64	485
GT1_amsD_like	cd03820	1.4e-06	64	485
Glycosyltransferase_	cd01635	1.1e-16	65	437
GT1_wlbH_like	cd03798	3.9e-07	65	487
GT1_UGDG_like	cd03817	0.00022	98	490
GT1_amsK_like	cd03799	0.00042	112	484
GT1_Sucrose_synthase	cd03800	0.00011	148	480
GT1_cap1E_like	cd03808	0.00033	163	485
Glycos_transf_1	pfam00534	2.1e-29	286	470

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs17480245	Polymorphism	p.ASN108SER	N/A
Swiss-Prot	VAR_068071	Disease	p.GLN318PRO	Congenital disorder of glycosylation 1P (CDG1P)
Swiss-Prot	VAR_068073	Disease	p.GLU398LYS	Congenital disorder of glycosylation 1P (CDG1P)
Swiss-Prot	VAR_068072	Disease	p.LEU381SER	Congenital disorder of glycosylation 1P (CDG1P)
Swiss-Prot	VAR_064908	Disease	p.LEU86SER	Congenital disorder of glycosylation 1P (CDG1P)
Swiss-Prot	VAR_068070	Disease	p.TYR279SER	Congenital disorder of glycosylation 1P (CDG1P)
OMIM	613666.0006	Disease	p.GLN318PRO	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip
OMIM	613666.0005	Disease	p.GLU398LYS	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip
OMIM	613666.0004	Disease	p.LEU381SER	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip
OMIM	613666.0001	Disease	p.LEU86SER	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip
OMIM	613666.0003	Disease	p.TYR279SER	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip

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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