Results for the protein: Q13286

Results for the Protein: Q13286

2498243

1201

CLN3

NCBI, UniProt

CLN3_HUMAN RecName: Full=Battenin; AltName: Full=Batten disease protein; AltName: Full=Protein CLN3; Flags: Precursor

Known Diseases associated with this Protein:
CEROID LIPOFUSCINOSIS, NEURONAL, 3 (CLN3)
CEROID LIPOFUSCINOSIS, NEURONAL, 3, PROTRACTED

11

2

2

2

9

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Default View: CLN3 - pfam02487	Swiss-Prot Protein: Q13286 Identical to: NP_000077, NP_001035897 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_005135	Disease	p.ARG334CYS	Ceroid lipofuscinosis, neuronal, 3 (CLN3)
Swiss-Prot	VAR_005136	Disease	p.ARG334HIS	Ceroid lipofuscinosis, neuronal, 3 (CLN3)
Swiss-Prot	VAR_066892	Disease	p.CYS134ARG	Ceroid lipofuscinosis, neuronal, 3 (CLN3)
Swiss-Prot	VAR_005133	Disease	p.GLU295LYS	Ceroid lipofuscinosis, neuronal, 3 (CLN3)
Swiss-Prot	VAR_066893	Disease	p.GLY187ALA	Ceroid lipofuscinosis, neuronal, 3 (CLN3)
Swiss-Prot	VAR_066894	Disease	p.GLY189ARG	Ceroid lipofuscinosis, neuronal, 3 (CLN3)
dbSNP	rs77595156	Polymorphism	p.HIS404ARG	N/A
dbSNP	rs11552531	Polymorphism	p.ILE105VAL	N/A
Swiss-Prot	VAR_005131	Disease	p.LEU101PRO	Ceroid lipofuscinosis, neuronal, 3 (CLN3)
Swiss-Prot	VAR_005132	Disease	p.LEU170PRO	Ceroid lipofuscinosis, neuronal, 3 (CLN3)
Swiss-Prot	VAR_005134	Disease	p.VAL330PHE	Ceroid lipofuscinosis, neuronal, 3 (CLN3)
OMIM	607042.0005	Disease	p.GLU295LYS	CEROID LIPOFUSCINOSIS, NEURONAL, 3, PROTRACTED
OMIM	607042.0006	Disease	p.TYR199TER	CEROID LIPOFUSCINOSIS, NEURONAL, 3, PROTRACTED

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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