Results for the protein: P06865

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
GH20_HexA_HexB-like	cd06562	2.7e-220	167	511
GH20_SpHex_like	cd06568	2.4e-15	167	500
GH20_chitobiase-like	cd06563	9e-45	167	500
GH20_chitobiase-like	cd06570	1.7e-52	167	500
GH20_DspB_LnbB-like	cd06564	1.9e-14	168	487
GH20_hexosaminidase	cd02742	1.7e-159	169	486
GH20_GcnA-like	cd06565	0.00021	169	486
Glyco_hydro_20b	pfam02838	3.7e-63	35	165
Glyco_hydro_20	pfam00728	9.6e-116	167	488

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_003208	Disease	p.ARG178CYS	GM2-gangliosidosis 1 (GM2G1)
Swiss-Prot	VAR_003243	Disease	p.ARG499CYS	GM2-gangliosidosis 1 (GM2G1)
Swiss-Prot	VAR_003245	Disease	p.ARG504CYS	GM2-gangliosidosis 1 (GM2G1)
Swiss-Prot	VAR_003206	Disease	p.ARG170GLN	GM2-gangliosidosis 1 (GM2G1)
Swiss-Prot	VAR_003205	Disease	p.ARG166GLY	GM2-gangliosidosis 1 (GM2G1)
Swiss-Prot	VAR_003209	Disease	p.ARG178HIS	GM2-gangliosidosis 1 (GM2G1)
Swiss-Prot	VAR_003223	Disease	p.ARG252HIS	GM2-gangliosidosis 1 (GM2G1)
Swiss-Prot	VAR_003244	Disease	p.ARG499HIS	GM2-gangliosidosis 1 (GM2G1)
Swiss-Prot	VAR_003246	Disease	p.ARG504HIS	GM2-gangliosidosis 1 (GM2G1)
Swiss-Prot	VAR_003210	Disease	p.ARG178LEU	GM2-gangliosidosis 1 (GM2G1)
Swiss-Prot	VAR_017188	Disease	p.ARG252LEU	GM2-gangliosidosis 1 (GM2G1)
Swiss-Prot	VAR_003207	Disease	p.ARG170TRP	GM2-gangliosidosis 1 (GM2G1)
Swiss-Prot	VAR_003219	Polymorphism	p.ARG247TRP	N/A
Swiss-Prot	VAR_003220	Polymorphism	p.ARG249TRP	N/A
dbSNP	rs1800430	Polymorphism	p.ASN399ASP	N/A
Swiss-Prot	VAR_003213	Disease	p.ASN196SER	GM2-gangliosidosis 1 (GM2G1)
Swiss-Prot	VAR_017189	Disease	p.ASN295SER	GM2-gangliosidosis 1 (GM2G1)
Swiss-Prot	VAR_003224	Disease	p.ASP258HIS	GM2-gangliosidosis 1 (GM2G1)
Swiss-Prot	VAR_022442	Disease	p.ASP314VAL	GM2-gangliosidosis 1 (GM2G1)
Swiss-Prot	VAR_003238	Disease	p.CYS458TYR	GM2-gangliosidosis 1 (GM2G1)
dbSNP	rs4777502	Polymorphism	p.GLU506ASP	N/A
Swiss-Prot	VAR_003240	Disease	p.GLU482LYS	GM2-gangliosidosis 1 (GM2G1)
Swiss-Prot	VAR_003237	Disease	p.GLY455ARG	GM2-gangliosidosis 1 (GM2G1)
Swiss-Prot	VAR_003221	Disease	p.GLY250ASP	GM2-gangliosidosis 1 (GM2G1)
Swiss-Prot	VAR_022441	Disease	p.GLY269ASP	GM2-gangliosidosis 1 (GM2G1)
Swiss-Prot	VAR_003222	Disease	p.GLY250SER	GM2-gangliosidosis 1 (GM2G1)
Swiss-Prot	VAR_003225	Disease	p.GLY269SER	GM2-gangliosidosis 1 (GM2G1)
Swiss-Prot	VAR_003236	Disease	p.GLY454SER	GM2-gangliosidosis 1 (GM2G1)
Swiss-Prot	VAR_003216	Disease	p.HIS204ARG	GM2-gangliosidosis 1 (GM2G1)
Swiss-Prot	VAR_003230	Disease	p.ILE335PHE	GM2-gangliosidosis 1 (GM2G1)
dbSNP	rs1800431	Polymorphism	p.ILE436VAL	N/A
Swiss-Prot	VAR_003204	Disease	p.LEU127ARG	GM2-gangliosidosis 1 (GM2G1)
Swiss-Prot	VAR_003203	Disease	p.LEU39ARG	GM2-gangliosidosis 1 (GM2G1)
Swiss-Prot	VAR_003241	Disease	p.LEU484GLN	GM2-gangliosidosis 1 (GM2G1)
Swiss-Prot	VAR_022439	Disease	p.LEU127PHE	GM2-gangliosidosis 1 (GM2G1)
Swiss-Prot	VAR_003214	Disease	p.LYS197THR	GM2-gangliosidosis 1 (GM2G1)
Swiss-Prot	VAR_003227	Disease	p.MET301ARG	GM2-gangliosidosis 1 (GM2G1)
Swiss-Prot	VAR_003218	Disease	p.PHE211SER	GM2-gangliosidosis 1 (GM2G1)
Swiss-Prot	VAR_003202	Disease	p.PRO25SER	GM2-gangliosidosis 1 (GM2G1)
Swiss-Prot	VAR_058477	Polymorphism	p.SER293ILE	N/A
Swiss-Prot	VAR_003217	Disease	p.SER210PHE	GM2-gangliosidosis 1 (GM2G1)
Swiss-Prot	VAR_022440	Disease	p.SER226PHE	GM2-gangliosidosis 1 (GM2G1)
Swiss-Prot	VAR_003226	Disease	p.SER279PRO	GM2-gangliosidosis 1 (GM2G1)
Swiss-Prot	VAR_003242	Disease	p.TRP485ARG	GM2-gangliosidosis 1 (GM2G1)
Swiss-Prot	VAR_003234	Disease	p.TRP420CYS	GM2-gangliosidosis 1 (GM2G1)
Swiss-Prot	VAR_003239	Disease	p.TRP474CYS	GM2-gangliosidosis 1 (GM2G1)
Swiss-Prot	VAR_003211	Disease	p.TYR180HIS	GM2-gangliosidosis 1 (GM2G1)
Swiss-Prot	VAR_003212	Disease	p.VAL192LEU	GM2-gangliosidosis 1 (GM2G1)
Swiss-Prot	VAR_003215	Disease	p.VAL200MET	GM2-gangliosidosis 1 (GM2G1)
Swiss-Prot	VAR_003232	Disease	p.VAL391MET	GM2-gangliosidosis 1 (GM2G1)
OMIM	606869.0007	Disease	p.ARG178CYS	TAY-SACHS DISEASE, B1 VARIANT\|\|HEXA, CZECHOSLOVAKIAN ALLELE
OMIM	606869.0028	Disease	p.ARG499CYS	GM2-GANGLIOSIDOSIS, ADULT-ONSET
OMIM	606869.0015	Disease	p.ARG504CYS	GM2-GANGLIOSIDOSIS, CHRONIC
OMIM	606869.0011	Disease	p.ARG170GLN	TAY-SACHS DISEASE
OMIM	606869.0006	Disease	p.ARG178HIS	TAY-SACHS DISEASE, B1 VARIANT\|\|HEXA, DN ALLELE
OMIM	606869.0010	Disease	p.ARG499HIS	GM2-GANGLIOSIDOSIS, JUVENILE
OMIM	606869.0009	Disease	p.ARG504HIS	GM2-GANGLIOSIDOSIS, JUVENILE
OMIM	606869.0024	Disease	p.ARG178LEU	TAY-SACHS DISEASE
OMIM	606869.0019	Disease	p.ARG137TER	TAY-SACHS DISEASE
OMIM	606869.0020	Disease	p.ARG393TER	TAY-SACHS DISEASE
OMIM	606869.0039	Disease	p.ARG170TRP	TAY-SACHS DISEASE
OMIM	606869.0035	Disease	p.ARG247TRP	BETA-HEXOSAMINIDASE A, PSEUDODEFICIENCY OF
OMIM	606869.0038	Disease	p.ASP258HIS	TAY-SACHS DISEASE, B1 VARIANT
OMIM	606869.0058	Disease	p.CYS58TYR	TAY SACHS DISEASE, MILD
OMIM	606869.0004	Disease	p.GLU482LYS	TAY-SACHS DISEASE
OMIM	606869.0013	Disease	p.GLY250ASP	TAY-SACHS DISEASE, JUVENILE
OMIM	606869.0008	Disease	p.GLY269SER	GM2-GANGLIOSIDOSIS, ADULT
OMIM	606869.0048	Disease	p.GLY454SER	TAY-SACHS DISEASE
OMIM	606869.0045	Disease	p.HIS204ARG	TAY-SACHS DISEASE
OMIM	606869.0044	Disease	p.LEU127ARG	TAY-SACHS DISEASE
OMIM	606869.0049	Disease	p.LEU39ARG	TAY-SACHS DISEASE
OMIM	606869.0056	Disease	p.LEU451VAL	TAY-SACHS DISEASE
OMIM	606869.0041	Disease	p.LYS197THR	GM2-GANGLIOSIDOSIS, LATE ONSET
OMIM	606869.0047	Disease	p.MET301ARG	TAY-SACHS DISEASE
OMIM	606869.0043	Disease	p.PHE211SER	TAY-SACHS DISEASE
OMIM	606869.0017	Disease	p.SER210PHE	TAY-SACHS DISEASE
OMIM	606869.0030	Disease	p.TRP485ARG	TAY-SACHS DISEASE
OMIM	606869.0012	Disease	p.TRP420CYS	TAY-SACHS DISEASE
OMIM	606869.0055	Disease	p.TRP474CYS	GM2-GANGLIOSIDOSIS, SUBACUTE
OMIM	606869.0023	Disease	p.TRP26TER	TAY-SACHS DISEASE
OMIM	606869.0029	Disease	p.TRP329TER	GM2-GANGLIOSIDOSIS, B1 VARIANT
OMIM	606869.0050	Disease	p.TRP392TER	TAY-SACHS DISEASE
OMIM	606869.0053	Disease	p.TYR180HIS	GM2-GANGLIOSIDOSIS, LATE ONSET
OMIM	606869.0032	Disease	p.TYR180TER	TAY-SACHS DISEASE
OMIM	606869.0036	Disease	p.VAL192LEU	TAY-SACHS DISEASE, B1 VARIANT
OMIM	606869.0036	Disease	p.VAL200MET	TAY-SACHS DISEASE, B1 VARIANT
OMIM	606869.0057	Disease	p.VAL324VAL	GM2-GANGLIOSIDOSIS, SUBACUTE

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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