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Results for the Protein: Q9Y5P6
160013885

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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Default View:

RfbA - COG1209
GlmU - COG1207
GlgC - COG0448
GalU - COG1210
GCD1 - COG1208
eIF-2B_gamma_N_like - cd02507
COG1213 - COG1213
LicC - COG4750
M1P_guanylylT_B_like - cd06425
G1P_TT_short - cd02538
GDP-M1P_Guanylyltran - cd02509
UGPase_prokaryotic - cd02541
GT_2_like_f - cd04182
eIF-2B_epsilon_N - cd04197
G1P_TT_long - cd04189
eIF-2B_gamma_N - cd04198
NTP_transferase - pfam00483
NTP_transferase_like - cd06422
PC_cytidylyltransfer - cd02523
ADP_Glucose_PP - cd02508
Glyco_tranf_GTA_type - cd00761
M1P_guanylylT_A_like - cd06428
NTP_transferase_WcbM - cd06915
GT2_GlmU_N_bac - cd02540
G1P_cytidylyltransfe - cd02524
NTP_transferase - cd04181
NTP_transferase_like - cd06426
LbH_LpxD - cd03352
LbH_eIF2B_gamma_C - cd04652
LbH_G1P_AT_C_like - cd03356
LbH_M1P_guanylylT_C - cd05824
LbH_eIF2B_epsilon - cd05787


Swiss-Prot Protein: Q9Y5P6
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
eIF-2B_gamma_N_likecd025079.9e-091183
GDP-M1P_Guanylyltrancd025093.2e-071225
G1P_TT_shortcd025381.3e-111235
UGPase_prokaryoticcd025411.1e-141235
GT_2_like_fcd041820.000171184
G1P_TT_longcd041899e-251235
eIF-2B_epsilon_Ncd041974e-081183
eIF-2B_gamma_Ncd041985.9e-061183
M1P_guanylylT_B_likecd064251.3e-1891233
GlgCCOG04483.2e-091345
GlmUCOG12073e-091360
RfbACOG12098.3e-201279
GalUCOG12101.4e-111254
GCD1COG12081e-1191357
COG1213COG12132e-061243
NTP_transferase_likecd064229.4e-422228
Glyco_tranf_GTA_typecd007613.2e-083210
ADP_Glucose_PPcd025084.8e-083219
PC_cytidylyltransfercd025231.6e-103229
GT2_GlmU_N_baccd025408.5e-093212
G1P_cytidylyltransfecd025246e-123238
NTP_transferasecd041814.6e-883220
NTP_transferase_likecd064261.3e-243229
M1P_guanylylT_A_likecd064282.1e-313232
NTP_transferase_WcbMcd069155.7e-503229
LbH_LpxDcd033520.00026253350
LbH_G1P_AT_C_likecd033563.2e-18255334
LbH_eIF2B_gamma_Ccd046520.00027255337
LbH_M1P_guanylylT_Ccd058242.2e-39255334
LbH_eIF2B_epsiloncd057876.2e-05262316
LicCCOG47500.000121193
NTP_transferasepfam004835.7e-592235

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_070145Diseasep.ARG185CYSMuscular dystrophy-dystroglycanopathy congenital with mental retardation B14 (MDDGB14)
Swiss-ProtVAR_070146Diseasep.ARG287GLNMuscular dystrophy-dystroglycanopathy congenital with mental retardation B14 (MDDGB14)
Swiss-ProtVAR_070148Diseasep.ASP334ASNMuscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A14 (MDDGA14)
Swiss-ProtVAR_070143Diseasep.ASP27HISMuscular dystrophy-dystroglycanopathy limb-girdle C14 (MDDGC14)
Swiss-ProtVAR_035373Polymorphismp.GLN184ARGN/A
Swiss-ProtVAR_035372Polymorphismp.HIS126ASPN/A
Swiss-ProtVAR_070144Diseasep.PRO32LEUMuscular dystrophy-dystroglycanopathy congenital with mental retardation B14 (MDDGB14)
Swiss-ProtVAR_070142Diseasep.PRO22SERMuscular dystrophy-dystroglycanopathy limb-girdle C14 (MDDGC14)
Swiss-ProtVAR_070147Diseasep.VAL330ILEMuscular dystrophy-dystroglycanopathy limb-girdle C14 (MDDGC14)



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