Results for the protein: Q6PI48

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
AsnS	COG0017	5.6e-13	48	614
AspS	COG0173	5.9e-259	49	636
EcAspRS_like_N	cd04317	7.9e-72	50	183
ND_PkAspRS_like_N	cd04316	9.9e-07	55	160
Asp_Lys_Asn_RS_N	cd04100	3.7e-32	65	151
PhAsnRS_like_N	cd04319	1.2e-05	65	176
ScAspRS_mt_like_N	cd04321	3.7e-05	65	151
AsnRS_cyto_like_N	cd04323	1.4e-06	65	151
AsxRS_core	cd00776	4.2e-11	164	609
LysRS_core	cd00775	5e-05	186	607
Asp_Lys_Asn_RS_core	cd00669	3.2e-103	187	609
AspRS_core	cd00777	1.7e-236	187	609
class_II_aaRS-like_c	cd00768	3.3e-16	189	588
tRNA_anti	pfam01336	1.2e-17	66	149
tRNA-synt_2	pfam00152	4.3e-185	166	609
GAD	pfam02938	1.2e-10	356	452

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_037020	Disease	p.ARG263GLN	Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL)
Swiss-Prot	VAR_037017	Disease	p.ARG179HIS	Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL)
Swiss-Prot	VAR_037021	Disease	p.ASP560VAL	Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL)
Swiss-Prot	VAR_037016	Disease	p.CYS152PHE	Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL)
Swiss-Prot	VAR_037018	Disease	p.GLN184LYS	Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL)
Swiss-Prot	VAR_037019	Disease	p.GLN248LYS	Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL)
Swiss-Prot	VAR_037023	Disease	p.LEU626GLN	Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL)
Swiss-Prot	VAR_037022	Disease	p.LEU613PHE	Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL)
Swiss-Prot	VAR_027612	Polymorphism	p.LEU10VAL	N/A
Swiss-Prot	VAR_037024	Disease	p.LEU626VAL	Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL)
dbSNP	rs35515638	Polymorphism	p.LYS196ARG	N/A
Swiss-Prot	VAR_037015	Disease	p.SER45GLY	Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL)
Swiss-Prot	VAR_037025	Disease	p.TYR629CYS	Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL)
OMIM	610956.0004	Disease	p.ARG263GLN	LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND\|\|LACTATE ELEVATION
OMIM	610956.0008	Disease	p.ARG179HIS	LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND\|\|LACTATE ELEVATION
OMIM	610956.0003	Disease	p.ARG263TER	LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND\|\|LACTATE ELEVATION
OMIM	610956.0013	Disease	p.ARG609TRP	LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND\|\|LACTATE ELEVATION, MILD
OMIM	610956.0005	Disease	p.CYS152PHE	LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND\|\|LACTATE ELEVATION
OMIM	610956.0009	Disease	p.GLU425TER	LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND\|\|LACTATE ELEVATION
OMIM	610956.0011	Disease	p.LEU626GLN	LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND\|\|LACTATE ELEVATION
OMIM	610956.0010	Disease	p.LEU613PHE	LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND\|\|LACTATE ELEVATION
OMIM	610956.0002	Disease	p.LEU626VAL	LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND\|\|LACTATE ELEVATION
OMIM	610956.0007	Disease	p.SER45GLY	LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND\|\|LACTATE ELEVATION

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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