Results for the protein: Q9Y5P6

Results for the Protein: Q9Y5P6

160013885

29925

GMPPB

NCBI, UniProt

GMPPB_HUMAN RecName: Full=Mannose-1-phosphate guanyltransferase beta; AltName: Full=GDP-mannose pyrophosphorylase B; AltName: Full=GTP-mannose-1-phosphate guanylyltransferase beta

Known Diseases associated with this Protein:
  MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES A14 (MDDGA14)
  MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION B14 (MDDGB14)
  MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE C14 (MDDGC14)

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2

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9

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Swiss-Prot Protein: Q9Y5P6

Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
GDP-M1P_Guanylyltran	cd02509	3.2e-07	1	225
G1P_TT_short	cd02538	1.3e-11	1	235
UGPase_prokaryotic	cd02541	1.1e-14	1	235
GT_2_like_f	cd04182	0.00017	1	184
G1P_TT_long	cd04189	9e-25	1	235
eIF-2B_epsilon_N	cd04197	4e-08	1	183
eIF-2B_gamma_N	cd04198	5.9e-06	1	183
M1P_guanylylT_B_like	cd06425	1.3e-189	1	233
GlgC	COG0448	3.2e-09	1	345
GlmU	COG1207	3e-09	1	360
RfbA	COG1209	8.3e-20	1	279
GalU	COG1210	1.4e-11	1	254
GCD1	COG1208	1e-119	1	357
COG1213	COG1213	2e-06	1	243
NTP_transferase_like	cd06422	9.4e-42	2	228
Glyco_tranf_GTA_type	cd00761	3.2e-08	3	210
ADP_Glucose_PP	cd02508	4.8e-08	3	219
PC_cytidylyltransfer	cd02523	1.6e-10	3	229
GT2_GlmU_N_bac	cd02540	8.5e-09	3	212
G1P_cytidylyltransfe	cd02524	6e-12	3	238
NTP_transferase	cd04181	4.6e-88	3	220
NTP_transferase_like	cd06426	1.3e-24	3	229
M1P_guanylylT_A_like	cd06428	2.1e-31	3	232
NTP_transferase_WcbM	cd06915	5.7e-50	3	229
LbH_LpxD	cd03352	0.00026	253	350
LbH_G1P_AT_C_like	cd03356	3.2e-18	255	334
LbH_eIF2B_gamma_C	cd04652	0.00027	255	337
LbH_M1P_guanylylT_C	cd05824	2.2e-39	255	334
LbH_eIF2B_epsilon	cd05787	6.2e-05	262	316
LicC	COG4750	0.00012	1	193
NTP_transferase	pfam00483	5.7e-59	2	235

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_070145	Disease	p.ARG185CYS	Muscular dystrophy-dystroglycanopathy congenital with mental retardation B14 (MDDGB14)
Swiss-Prot	VAR_070146	Disease	p.ARG287GLN	Muscular dystrophy-dystroglycanopathy congenital with mental retardation B14 (MDDGB14)
Swiss-Prot	VAR_070148	Disease	p.ASP334ASN	Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A14 (MDDGA14)
Swiss-Prot	VAR_070143	Disease	p.ASP27HIS	Muscular dystrophy-dystroglycanopathy limb-girdle C14 (MDDGC14)
Swiss-Prot	VAR_035373	Polymorphism	p.GLN184ARG	N/A
Swiss-Prot	VAR_035372	Polymorphism	p.HIS126ASP	N/A
Swiss-Prot	VAR_070144	Disease	p.PRO32LEU	Muscular dystrophy-dystroglycanopathy congenital with mental retardation B14 (MDDGB14)
Swiss-Prot	VAR_070142	Disease	p.PRO22SER	Muscular dystrophy-dystroglycanopathy limb-girdle C14 (MDDGC14)
Swiss-Prot	VAR_070147	Disease	p.VAL330ILE	Muscular dystrophy-dystroglycanopathy limb-girdle C14 (MDDGC14)

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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