Results for the protein: Q96IJ6

Results for the Protein: Q96IJ6

74732065

29926

GMPPA

NCBI, UniProt

GMPPA_HUMAN RecName: Full=Mannose-1-phosphate guanyltransferase alpha; AltName: Full=GDP-mannose pyrophosphorylase A; AltName: Full=GTP-mannose-1-phosphate guanylyltransferase alpha

Known Diseases associated with this Protein:
ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME
ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME (AAMR)

9

2

4

1

6

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Swiss-Prot Protein: Q96IJ6

Identical to: NP_995319, NP_037467

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Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
GlmU	COG1207	1.6e-06	1	409
GCD1	COG1208	5.5e-69	1	412
GalU	COG1210	0.00024	1	237
eIF-2B_gamma_N_like	cd02507	1.4e-07	2	191
G1P_TT_short	cd02538	0.00011	2	236
UGPase_prokaryotic	cd02541	0.00024	2	253
G1P_TT_long	cd04189	3.5e-10	2	224
eIF-2B_epsilon_N	cd04197	3.8e-06	2	191
eIF-2B_gamma_N	cd04198	3.2e-05	2	191
M1P_guanylylT_B_like	cd06425	1.8e-25	2	262
RfbA	COG1209	2.7e-08	2	269
NTP_transferase_like	cd06422	5e-11	3	226
Glyco_tranf_GTA_type	cd00761	3.3e-07	4	239
ADP_Glucose_PP	cd02508	6.8e-05	4	248
PC_cytidylyltransfer	cd02523	1.8e-05	4	258
GT2_GlmU_N_bac	cd02540	2.7e-05	4	213
NTP_transferase	cd04181	3.9e-68	4	249
NTP_transferase_like	cd06426	4.2e-10	4	208
M1P_guanylylT_A_like	cd06428	9.3e-194	4	261
NTP_transferase_WcbM	cd06915	2.7e-11	4	252
LbH_UDP-GlcNAc_AT	cd03351	6.2e-05	288	414
LbH_G1P_AT_C_like	cd03356	4.8e-06	288	357
LbH_M1P_guanylylT_C	cd05824	3.8e-24	288	364
LbH_eIF2B_gamma_C	cd04652	0.00042	294	357
LbH_eIF2B_epsilon	cd05787	0.00036	300	356
NTP_transferase	pfam00483	2.2e-13	3	264

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_070206	Disease	p.ARG390PRO	Alacrima, achalasia, and mental retardation syndrome (AAMR)
Swiss-Prot	VAR_070207	Disease	p.ASN401THR	Alacrima, achalasia, and mental retardation syndrome (AAMR)
Swiss-Prot	VAR_070203	Disease	p.GLY182ASP	Alacrima, achalasia, and mental retardation syndrome (AAMR)
dbSNP	rs34218609	Polymorphism	p.SER21PHE	N/A
Swiss-Prot	VAR_070204	Disease	p.THR334MET	Alacrima, achalasia, and mental retardation syndrome (AAMR)
Swiss-Prot	VAR_070205	Disease	p.THR334PRO	Alacrima, achalasia, and mental retardation syndrome (AAMR)
Swiss-Prot	VAR_042435	Polymorphism	p.VAL156ALA	N/A
OMIM	615495.0001	Disease	p.ARG99TER	ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME
OMIM	615495.0003	Disease	p.GLY182ASP	ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME
OMIM	615495.0002	Disease	p.THR334PRO	ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME
OMIM	615495.0005	Disease	p.TRP214TER	ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME

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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