Results for the protein: Q13144

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
eIF-2B_gamma_N_like	cd02507	4.1e-89	43	257
eIF-2B_epsilon_N	cd04197	2.3e-127	43	257
eIF-2B_gamma_N	cd04198	1e-07	43	257
NTP_transferase	cd04181	6.6e-05	45	267
LbH_G1P_TT_C_like	cd05636	0.00085	331	450
LbH_LpxD	cd03352	1.1e-05	341	478
LbH_WxcM_N_like	cd03358	0.00038	345	444
LbH_G1P_AT_C	cd04651	4.1e-07	346	443
LbH_G1P_AT_C_like	cd03356	6e-35	361	439
LbH_eIF2B_gamma_C	cd04652	2e-08	361	441
LbH_eIF2B_epsilon	cd05787	7.3e-42	361	439
W2	pfam02020	9.9e-21	642	713
eIF5C	smart00515	3.7e-32	629	713

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_068459	Disease	p.ALA74THR	Leukodystrophy with vanishing white matter (VWM)
Swiss-Prot	VAR_068460	Disease	p.ARG113CYS	Leukodystrophy with vanishing white matter (VWM)
Swiss-Prot	VAR_016845	Disease	p.ARG195CYS	Leukodystrophy with vanishing white matter (VWM)
Swiss-Prot	VAR_068465	Disease	p.ARG315CYS	Leukodystrophy with vanishing white matter (VWM)
Swiss-Prot	VAR_068462	Disease	p.ARG269GLN	Leukodystrophy with vanishing white matter (VWM)
Swiss-Prot	VAR_012329	Disease	p.ARG339GLN	Leukodystrophy with vanishing white matter (VWM)
Swiss-Prot	VAR_068461	Disease	p.ARG269GLY	Leukodystrophy with vanishing white matter (VWM)
Swiss-Prot	VAR_012326	Disease	p.ARG315GLY	Leukodystrophy with vanishing white matter (VWM)
Swiss-Prot	VAR_012292	Disease	p.ARG113HIS	Leukodystrophy with vanishing white matter (VWM)
Swiss-Prot	VAR_016846	Disease	p.ARG195HIS	Leukodystrophy with vanishing white matter (VWM)
Swiss-Prot	VAR_012325	Disease	p.ARG299HIS	Leukodystrophy with vanishing white matter (VWM)
Swiss-Prot	VAR_012327	Disease	p.ARG315HIS	Leukodystrophy with vanishing white matter (VWM)
Swiss-Prot	VAR_012328	Disease	p.ARG339PRO	Leukodystrophy with vanishing white matter (VWM)
Swiss-Prot	VAR_012330	Disease	p.ARG339TRP	Leukodystrophy with vanishing white matter (VWM)
Swiss-Prot	VAR_068468	Disease	p.ASN376ASP	Leukodystrophy with vanishing white matter (VWM)
Swiss-Prot	VAR_048919	Polymorphism	p.ASN200THR	N/A
Swiss-Prot	VAR_068463	Disease	p.ASP270HIS	Leukodystrophy with vanishing white matter (VWM)
Swiss-Prot	VAR_068457	Disease	p.ASP62VAL	Leukodystrophy with vanishing white matter (VWM)
Swiss-Prot	VAR_068466	Disease	p.CYS335ARG	Leukodystrophy with vanishing white matter (VWM)
Swiss-Prot	VAR_068464	Disease	p.CYS310PHE	Leukodystrophy with vanishing white matter (VWM)
Swiss-Prot	VAR_068467	Disease	p.CYS335SER	Leukodystrophy with vanishing white matter (VWM)
Swiss-Prot	VAR_012333	Disease	p.GLU650LYS	Leukodystrophy with vanishing white matter (VWM)
Swiss-Prot	VAR_012293	Disease	p.GLY386VAL	Leukodystrophy with vanishing white matter (VWM)
dbSNP	rs843358	Polymorphism	p.ILE587VAL	N/A
Swiss-Prot	VAR_012324	Disease	p.LEU106PHE	Leukodystrophy with vanishing white matter (VWM)
Swiss-Prot	VAR_068458	Disease	p.LEU68SER	Leukodystrophy with vanishing white matter (VWM)
Swiss-Prot	VAR_068469	Disease	p.SER447LEU	Leukodystrophy with vanishing white matter (VWM)
Swiss-Prot	VAR_012291	Disease	p.THR91ALA	Leukodystrophy with vanishing white matter (VWM)
Swiss-Prot	VAR_012294	Disease	p.TRP628ARG	Leukodystrophy with vanishing white matter (VWM)
Swiss-Prot	VAR_012331	Disease	p.VAL430ALA	Leukodystrophy with vanishing white matter (VWM)
Swiss-Prot	VAR_012323	Disease	p.VAL73GLY	Leukodystrophy with vanishing white matter (VWM)
OMIM	603945.0007	Disease	p.ARG195CYS	OVARIOLEUKODYSTROPHY
OMIM	603945.0004	Disease	p.ARG113HIS	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, ADULT-ONSET\|\|OVARIOLEUKODYSTROPHY, INCLUDED
OMIM	603945.0005	Disease	p.ARG195HIS	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER
OMIM	603945.0009	Disease	p.ARG315HIS	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER
OMIM	603945.0012	Disease	p.ASP270HIS	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, ADULT-ONSET
OMIM	603945.0003	Disease	p.GLY386VAL	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER
OMIM	603945.0006	Disease	p.LEU309VAL	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER
OMIM	603945.0011	Disease	p.PHE56CYS	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER
OMIM	603945.0010	Disease	p.PHE56VAL	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER
OMIM	603945.0001	Disease	p.THR91ALA	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER
OMIM	603945.0008	Disease	p.THR182MET	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, ADULT-ONSET
OMIM	603945.0002	Disease	p.TRP628ARG	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER

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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