Results for the protein: O60260

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
RAD23_N	cd01805	9.6e-05	1	74
Nedd8	cd01806	2.6e-06	1	77
hPLIC_N	cd01808	0.00019	1	72
Scythe_N	cd01809	1e-05	1	72
BAG1_N	cd01812	0.00023	1	72
parkin_N	cd01798	5.5e-47	3	72
UBQ	cd00196	1.1e-10	4	72
UBL	cd01769	2.7e-20	4	72
ubiquitin	pfam00240	3.9e-19	6	74
IBR	pfam01485	3.4e-14	310	377
IBR	pfam01485	2.6e-06	401	457
Rad60-SLD	pfam11976	1.7e-05	1	71
UBQ	smart00213	1.7e-12	1	65
IBR	smart00647	3.8e-17	313	377

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_019738	Disease	p.ALA82GLU	Parkinson disease 2 (PARK2)
Swiss-Prot	VAR_019737	Disease	p.ALA46PRO	Parkinson disease 2 (PARK2)
Swiss-Prot	VAR_019758	Polymorphism	p.ALA339SER	N/A
Swiss-Prot	VAR_062673	Polymorphism	p.ALA371THR	N/A
Swiss-Prot	VAR_019739	Disease	p.ALA92VAL	Parkinson disease 2 (PARK2)
Swiss-Prot	VAR_019750	Disease	p.ARG256CYS	Parkinson disease (PARK)
Swiss-Prot	VAR_019757	Disease	p.ARG334CYS	Parkinson disease 2 (PARK2)
Swiss-Prot	VAR_070079	Disease	p.ARG402CYS	Parkinson disease 2 (PARK2)
Swiss-Prot	VAR_019734	Disease	p.ARG33GLN	Parkinson disease 2 (PARK2)
Swiss-Prot	VAR_019736	Disease	p.ARG42PRO	Parkinson disease 2 (PARK2)
Swiss-Prot	VAR_019751	Polymorphism	p.ARG271SER	N/A
Swiss-Prot	VAR_019752	Disease	p.ARG275TRP	Parkinson disease (PARK)
Swiss-Prot	VAR_019760	Polymorphism	p.ARG366TRP	N/A
Swiss-Prot	VAR_019753	Disease	p.ASP280ASN	Parkinson disease (PARK)
Swiss-Prot	VAR_019762	Polymorphism	p.ASP394ASN	N/A
Swiss-Prot	VAR_070080	Disease	p.CYS418ARG	Parkinson disease 2 (PARK2)
Swiss-Prot	VAR_019767	Disease	p.CYS441ARG	Parkinson disease 2 (PARK2)
Swiss-Prot	VAR_019755	Disease	p.CYS289GLY	Parkinson disease 2 (PARK2)
Swiss-Prot	VAR_019765	Disease	p.CYS431PHE	Parkinson disease 2 (PARK2)
Swiss-Prot	VAR_019746	Disease	p.CYS212TYR	Parkinson disease 2 (PARK2)
Swiss-Prot	VAR_019749	Disease	p.CYS253TYR	Parkinson disease (PARK)
Swiss-Prot	VAR_062672	Polymorphism	p.GLN311ARG	N/A
Swiss-Prot	VAR_019740	Polymorphism	p.GLN100HIS	N/A
Swiss-Prot	VAR_019754	Disease	p.GLY284ARG	Parkinson disease 2 (PARK2)
Swiss-Prot	VAR_019764	Disease	p.GLY430ASP	Parkinson disease 2 (PARK2)
Swiss-Prot	VAR_019756	Disease	p.GLY328GLU	Parkinson disease 2 (PARK2)
Swiss-Prot	VAR_019745	Disease	p.LYS211ARG	Parkinson disease 2 (PARK2)
Swiss-Prot	VAR_019741	Disease	p.LYS161ASN	Parkinson disease 2 (PARK2)
Swiss-Prot	VAR_019744	Disease	p.LYS211ASN	Parkinson disease 2 (PARK2)
Swiss-Prot	VAR_054107	Polymorphism	p.MET192LEU	N/A
Swiss-Prot	VAR_019743	Polymorphism	p.MET192VAL	N/A
Swiss-Prot	VAR_019735	Disease	p.PRO37LEU	Parkinson disease 2 (PARK2)
Swiss-Prot	VAR_019766	Disease	p.PRO437LEU	Parkinson disease 2 (PARK2)
Swiss-Prot	VAR_019742	Polymorphism	p.SER167ASN	N/A
Swiss-Prot	VAR_019748	Disease	p.THR240ARG	Parkinson disease 2 (PARK2)
Swiss-Prot	VAR_019763	Disease	p.THR415ASN	Parkinson disease 2 (PARK2)
Swiss-Prot	VAR_019747	Disease	p.THR240MET	Parkinson disease 2 (PARK2)
Swiss-Prot	VAR_019759	Disease	p.THR351PRO	Parkinson disease 2 (PARK2)
Swiss-Prot	VAR_070078	Disease	p.VAL56GLU	Parkinson disease 2 (PARK2)
dbSNP	rs1801582	Polymorphism	p.VAL380LEU	N/A
Swiss-Prot	VAR_019733	Disease	p.VAL15MET	Parkinson disease 2 (PARK2)
OMIM	602544.0011	Disease	p.ALA82GLU	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
OMIM	602544.0017	Disease	p.ARG275TRP	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
OMIM	602544.0023	Disease	p.CYS431PHE	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
OMIM	602544.0012	Disease	p.CYS212TYR	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
OMIM	602544.0004	Disease	p.GLN311TER	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
OMIM	602544.0008	Disease	p.LYS161ASN	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
OMIM	602544.0018	Disease	p.LYS211ASN	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
OMIM	602544.0003	Disease	p.THR240ARG	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
OMIM	602544.0021	Disease	p.THR240MET	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
OMIM	602544.0007	Disease	p.TRP453TER	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
OMIM	602544.0013	Disease	p.VAL56GLU	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE

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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