Results for the protein: Q9NWW5

Results for the Protein: Q9NWW5

32129457

54982

CLN6

NCBI, UniProt

CLN6_HUMAN RecName: Full=Ceroid-lipofuscinosis neuronal protein 6; Short=Protein CLN6

Known Diseases associated with this Protein:
  CEROID LIPOFUSCINOSIS, NEURONAL, 4A (CLN4A)
  CEROID LIPOFUSCINOSIS, NEURONAL, 4A, AUTOSOMAL RECESSIVE
  CEROID LIPOFUSCINOSIS, NEURONAL, 6
  CEROID LIPOFUSCINOSIS, NEURONAL, 6 (CLN6)

34

2

7

0

29

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Default View:	Swiss-Prot Protein: Q9NWW5 Identical to: NP_060352 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_066904	Disease	p.ALA12THR	Ceroid lipofuscinosis, neuronal, 6 (CLN6)
Swiss-Prot	VAR_065835	Polymorphism	p.ALA34THR	N/A
Swiss-Prot	VAR_066908	Disease	p.ARG149CYS	Ceroid lipofuscinosis, neuronal, 6 (CLN6)
Swiss-Prot	VAR_065839	Disease	p.ARG103GLN	Ceroid lipofuscinosis, neuronal, 4A (CLN4A)
Swiss-Prot	VAR_065840	Disease	p.ARG149HIS	Ceroid lipofuscinosis, neuronal, 4A (CLN4A)
Swiss-Prot	VAR_066912	Disease	p.ARG252HIS	Ceroid lipofuscinosis, neuronal, 6 (CLN6)
Swiss-Prot	VAR_021549	Disease	p.ARG62HIS	Ceroid lipofuscinosis, neuronal, 6 (CLN6)
Swiss-Prot	VAR_065834	Disease	p.ARG6THR	Ceroid lipofuscinosis, neuronal, 4A (CLN4A)
Swiss-Prot	VAR_065838	Disease	p.ASN77LYS	Ceroid lipofuscinosis, neuronal, 4A (CLN4A)
Swiss-Prot	VAR_066906	Disease	p.ASN90LYS	Ceroid lipofuscinosis, neuronal, 6 (CLN6)
Swiss-Prot	VAR_021550	Disease	p.GLU72GLN	Ceroid lipofuscinosis, neuronal, 6 (CLN6)
Swiss-Prot	VAR_015683	Disease	p.GLY123ASP	Ceroid lipofuscinosis, neuronal, 6 (CLN6)
Swiss-Prot	VAR_066905	Disease	p.GLY17SER	Ceroid lipofuscinosis, neuronal, 6 (CLN6)
Swiss-Prot	VAR_066913	Disease	p.GLY259SER	Ceroid lipofuscinosis, neuronal, 6 (CLN6)
Swiss-Prot	VAR_065836	Disease	p.LEU47PHE	Ceroid lipofuscinosis, neuronal, 4A (CLN4A)
Swiss-Prot	VAR_066909	Disease	p.LEU169PRO	Ceroid lipofuscinosis, neuronal, 6 (CLN6)
Swiss-Prot	VAR_065837	Disease	p.LEU67PRO	Ceroid lipofuscinosis, neuronal, 4A (CLN4A)
Swiss-Prot	VAR_021552	Disease	p.MET241THR	Ceroid lipofuscinosis, neuronal, 6 (CLN6)
Swiss-Prot	VAR_066911	Disease	p.PHE234LEU	Ceroid lipofuscinosis, neuronal, 6 (CLN6)
Swiss-Prot	VAR_066910	Disease	p.PHE186SER	Ceroid lipofuscinosis, neuronal, 6 (CLN6)
Swiss-Prot	VAR_065841	Disease	p.PHE238THR	Ceroid lipofuscinosis, neuronal, 4A (CLN4A)
Swiss-Prot	VAR_058436	Disease	p.PRO159LEU	Ceroid lipofuscinosis, neuronal, 6 (CLN6)
Swiss-Prot	VAR_021554	Disease	p.PRO299LEU	Ceroid lipofuscinosis, neuronal, 6 (CLN6)
Swiss-Prot	VAR_066914	Disease	p.PRO297THR	Ceroid lipofuscinosis, neuronal, 6 (CLN6)
Swiss-Prot	VAR_066907	Disease	p.SER104PHE	Ceroid lipofuscinosis, neuronal, 6 (CLN6)
Swiss-Prot	VAR_065842	Polymorphism	p.SER308THR	N/A
Swiss-Prot	VAR_015686	Disease	p.TRP300ARG	Ceroid lipofuscinosis, neuronal, 6 (CLN6)
Swiss-Prot	VAR_058437	Disease	p.TYR221CYS	Ceroid lipofuscinosis, neuronal, 6 (CLN6)
Swiss-Prot	VAR_021551	Disease	p.TYR221SER	Ceroid lipofuscinosis, neuronal, 6 (CLN6)
OMIM	606725.0012	Disease	p.ARG103GLN	CEROID LIPOFUSCINOSIS, NEURONAL, 4A, AUTOSOMAL RECESSIVE
OMIM	606725.0014	Disease	p.ARG6THR	CEROID LIPOFUSCINOSIS, NEURONAL, 4A, AUTOSOMAL RECESSIVE
OMIM	606725.0001	Disease	p.GLU72TER	CEROID LIPOFUSCINOSIS, NEURONAL, 6
OMIM	606725.0003	Disease	p.GLY123ASP	CEROID LIPOFUSCINOSIS, NEURONAL, 6
OMIM	606725.0013	Disease	p.LEU47PHE	CEROID LIPOFUSCINOSIS, NEURONAL, 4A, AUTOSOMAL RECESSIVE
OMIM	606725.0011	Disease	p.LEU67PRO	CEROID LIPOFUSCINOSIS, NEURONAL, 4A, AUTOSOMAL RECESSIVE
OMIM	606725.0008	Disease	p.TYR221TER	CEROID LIPOFUSCINOSIS, NEURONAL, 6

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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