Results for the protein: Q9BXM7

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
PKc	cd00180	1.1e-66	162	509
STKc_MOK	cd07831	5.5e-05	219	509
PTKc	cd00192	6.2e-05	221	508
STKc_MAPKKK_Byr2_lik	cd06628	0.00037	221	509
STKc_CMGC	cd05118	0.0002	238	545
STKc_PDK1	cd05581	9.9e-05	239	512
PKc_STE	cd05122	9.2e-05	240	500
STKc_AGC	cd05123	1.8e-05	243	513
STKc_MEKK3_like	cd06625	0.00014	243	509
STKc_CDK_like	cd07829	2.6e-06	245	503
STKc_Cdc7_like	cd06627	0.00074	246	502
STKc_Nek3	cd08219	0.00015	246	509
STKc_Nek8	cd08220	0.00034	246	508
STKc_CDK4_6_like	cd07838	0.001	247	509
STKc_MAK_like	cd07830	0.00069	250	509
STKc_CCRK	cd07832	5.1e-05	251	510
STKc_Nek	cd08215	8.7e-06	251	509
STKc_CNK2-like	cd08530	0.00081	251	512
STKc_OSR1_SPAK	cd06610	0.00035	270	512
STKc_PAK	cd06614	0.00093	280	520
STKc_MAST_like	cd05579	7.1e-05	297	500
STKc_MEKK1_plant	cd06632	0.00035	306	502
STKc_Yank1	cd05578	1e-05	310	512
Pkinase	pfam00069	2.6e-09	241	512
Pkinase_Tyr	pfam07714	2.4e-05	156	507
TyrKc	smart00219	4.9e-05	156	507
STYKc	smart00221	3.4e-06	156	509
S_TKc	smart00220	4.6e-11	197	511

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_046578	Disease	p.ALA217ASP	Parkinson disease 6 (PARK6)
Swiss-Prot	VAR_046575	Disease	p.ALA168PRO	Parkinson disease 6 (PARK6)
Swiss-Prot	VAR_062774	Disease	p.ALA280THR	Parkinson disease 6 (PARK6)
Swiss-Prot	VAR_041014	Polymorphism	p.ALA339THR	N/A
dbSNP	rs3738136	Polymorphism	p.ALA340THR	N/A
Swiss-Prot	VAR_046595	Polymorphism	p.ALA383THR	N/A
Swiss-Prot	VAR_046611	Polymorphism	p.ALA537THR	N/A
Swiss-Prot	VAR_046572	Polymorphism	p.ALA124VAL	N/A
Swiss-Prot	VAR_046586	Polymorphism	p.ARG276GLN	N/A
Swiss-Prot	VAR_062778	Disease	p.ARG407GLN	Parkinson disease 6 (PARK6)
dbSNP	rs61744200	Polymorphism	p.ARG501GLN	N/A
Swiss-Prot	VAR_046583	Polymorphism	p.ARG263GLY	N/A
Swiss-Prot	VAR_046574	Polymorphism	p.ARG147HIS	N/A
Swiss-Prot	VAR_046587	Disease	p.ARG279HIS	Parkinson disease 6 (PARK6)
Swiss-Prot	VAR_046605	Disease	p.ARG464HIS	Parkinson disease 6 (PARK6)
Swiss-Prot	VAR_046608	Polymorphism	p.ARG501PRO	N/A
Swiss-Prot	VAR_046567	Polymorphism	p.ARG68PRO	N/A
Swiss-Prot	VAR_046569	Polymorphism	p.ARG98TRP	N/A
Swiss-Prot	VAR_046580	Polymorphism	p.ASN235ILE	N/A
Swiss-Prot	VAR_046603	Polymorphism	p.ASN451SER	N/A
dbSNP	rs1043424	Polymorphism	p.ASN521THR	N/A
Swiss-Prot	VAR_046609	Polymorphism	p.ASP525ASN	N/A
Swiss-Prot	VAR_046594	Polymorphism	p.ASP362HIS	N/A
Swiss-Prot	VAR_046596	Disease	p.CYS388ARG	Parkinson disease 6 (PARK6)
Swiss-Prot	VAR_046612	Polymorphism	p.CYS575ARG	N/A
Swiss-Prot	VAR_062773	Disease	p.CYS125GLY	Parkinson disease 6 (PARK6)
Swiss-Prot	VAR_041016	Polymorphism	p.CYS377PHE	N/A
Swiss-Prot	VAR_046568	Disease	p.CYS92PHE	Parkinson disease 6 (PARK6)
Swiss-Prot	VAR_046571	Polymorphism	p.GLN115LEU	N/A
Swiss-Prot	VAR_064344	Disease	p.GLN126PRO	Parkinson disease 6 (PARK6)
Swiss-Prot	VAR_046579	Polymorphism	p.GLU231GLY	N/A
Swiss-Prot	VAR_046599	Disease	p.GLU417GLY	Parkinson disease 6 (PARK6)
Swiss-Prot	VAR_046581	Disease	p.GLU240LYS	Parkinson disease 6 (PARK6)
Swiss-Prot	VAR_046606	Polymorphism	p.GLU476LYS	N/A
Swiss-Prot	VAR_062776	Disease	p.GLY386ALA	Parkinson disease 6 (PARK6)
Swiss-Prot	VAR_018994	Disease	p.GLY309ASP	Parkinson disease 6 (PARK6)
Swiss-Prot	VAR_046598	Polymorphism	p.GLY411SER	N/A
Swiss-Prot	VAR_046597	Polymorphism	p.GLY395VAL	N/A
Swiss-Prot	VAR_062779	Disease	p.GLY409VAL	Parkinson disease 6 (PARK6)
Swiss-Prot	VAR_046585	Disease	p.HIS271GLN	Parkinson disease 6 (PARK6)
Swiss-Prot	VAR_046570	Polymorphism	p.ILE111SER	N/A
Swiss-Prot	VAR_046602	Polymorphism	p.ILE442THR	N/A
Swiss-Prot	VAR_046566	Polymorphism	p.LEU67PHE	N/A
Swiss-Prot	VAR_046593	Disease	p.LEU347PRO	Parkinson disease 6 (PARK6)
Swiss-Prot	VAR_062775	Disease	p.LEU369PRO	Parkinson disease 6 (PARK6)
Swiss-Prot	VAR_046607	Disease	p.LEU489PRO	Parkinson disease 6 (PARK6)
Swiss-Prot	VAR_046604	Polymorphism	p.LEU461SER	N/A
Swiss-Prot	VAR_041010	Polymorphism	p.LEU148TRP	N/A
Swiss-Prot	VAR_046584	Disease	p.LEU268VAL	Parkinson disease 6 (PARK6)
Swiss-Prot	VAR_046576	Polymorphism	p.LYS186ASN	N/A
Swiss-Prot	VAR_041015	Polymorphism	p.MET341ILE	N/A
Swiss-Prot	VAR_046591	Polymorphism	p.MET318LEU	N/A
Swiss-Prot	VAR_046577	Disease	p.PRO196LEU	Parkinson disease 6 (PARK6)
Swiss-Prot	VAR_041012	Polymorphism	p.PRO209LEU	N/A
Swiss-Prot	VAR_041013	Polymorphism	p.PRO215LEU	N/A
Swiss-Prot	VAR_046588	Polymorphism	p.PRO296LEU	N/A
Swiss-Prot	VAR_018993	Polymorphism	p.PRO305LEU	N/A
Swiss-Prot	VAR_046592	Polymorphism	p.PRO322LEU	N/A
Swiss-Prot	VAR_062777	Disease	p.PRO399LEU	Parkinson disease 6 (PARK6)
Swiss-Prot	VAR_041011	Polymorphism	p.PRO196SER	N/A
Swiss-Prot	VAR_046600	Polymorphism	p.PRO425SER	N/A
Swiss-Prot	VAR_041017	Polymorphism	p.SER477THR	N/A
Swiss-Prot	VAR_046582	Polymorphism	p.THR257ILE	N/A
Swiss-Prot	VAR_046573	Polymorphism	p.THR145MET	N/A
Swiss-Prot	VAR_046589	Disease	p.THR313MET	Parkinson disease 6 (PARK6)
Swiss-Prot	VAR_046601	Polymorphism	p.TYR431HIS	N/A
Swiss-Prot	VAR_046590	Polymorphism	p.VAL317ILE	N/A
OMIM	608309.0011	Disease	p.ALA217ASP	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET
OMIM	608309.0008	Disease	p.ARG279HIS	PARKINSON DISEASE 6, EARLY-ONSET
OMIM	608309.0003	Disease	p.ARG246TER	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET
OMIM	608309.0012	Disease	p.GLN456TER	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET
OMIM	608309.0001	Disease	p.GLY309ASP	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET
OMIM	608309.0004	Disease	p.HIS271GLN	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET
OMIM	608309.0005	Disease	p.LEU347PRO	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET
OMIM	608309.0014	Disease	p.PRO399LEU	PARKINSON DISEASE, AUTOSOMAL RECESSIVE EARLY-ONSET, DIGENIC, PINK1/DJ1
OMIM	608309.0010	Disease	p.THR313MET	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET
OMIM	608309.0002	Disease	p.TRP437TER	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET
OMIM	608309.0013	Disease	p.TYR431HIS	PARKINSON DISEASE 6, LATE-ONSET, SUSCEPTIBILITY TO

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.

DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD 21250 | Department of Biological Sciences | Phone: 410-455-2258