Results for the protein: Q8NHS3

Results for the Protein: Q8NHS3

74730313

256471

MFSD8

NCBI, UniProt

MFSD8_HUMAN RecName: Full=Major facilitator superfamily domain-containing protein 8; AltName: Full=Ceroid-lipofuscinosis neuronal protein 7

Known Diseases associated with this Protein:
CEROID LIPOFUSCINOSIS, NEURONAL, 7
CEROID LIPOFUSCINOSIS, NEURONAL, 7 (CLN7)

20

3

6

2

15

Tips:

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Default View: ProP - COG0477 MFS - cd06174 MFS_1 - pfam07690 Sugar_tr - pfam00083	Swiss-Prot Protein: Q8NHS3 Identical to: NP_689991 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
MFS	cd06174	3.7e-73	39	503
Sugar_tr	pfam00083	0.00034	42	445
MFS_1	pfam07690	1.5e-17	42	469

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_058430	Disease	p.ALA157PRO	Ceroid lipofuscinosis, neuronal, 7 (CLN7)
dbSNP	rs3733319	Polymorphism	p.ALA423VAL	N/A
Swiss-Prot	VAR_066918	Disease	p.ARG465GLN	Ceroid lipofuscinosis, neuronal, 7 (CLN7)
Swiss-Prot	VAR_058429	Disease	p.ARG139HIS	Ceroid lipofuscinosis, neuronal, 7 (CLN7)
Swiss-Prot	VAR_058433	Disease	p.ARG465TRP	Ceroid lipofuscinosis, neuronal, 7 (CLN7)
dbSNP	rs11098943	Polymorphism	p.GLY385ARG	N/A
Swiss-Prot	VAR_058427	Disease	p.GLY52ARG	Ceroid lipofuscinosis, neuronal, 7 (CLN7)
Swiss-Prot	VAR_037177	Disease	p.GLY310ASP	Ceroid lipofuscinosis, neuronal, 7 (CLN7)
Swiss-Prot	VAR_037180	Disease	p.GLY429ASP	Ceroid lipofuscinosis, neuronal, 7 (CLN7)
Swiss-Prot	VAR_066919	Disease	p.MET470VAL	Ceroid lipofuscinosis, neuronal, 7 (CLN7)
Swiss-Prot	VAR_058432	Disease	p.PRO447LEU	Ceroid lipofuscinosis, neuronal, 7 (CLN7)
Swiss-Prot	VAR_066916	Disease	p.THR160ASN	Ceroid lipofuscinosis, neuronal, 7 (CLN7)
Swiss-Prot	VAR_066915	Disease	p.THR160ILE	Ceroid lipofuscinosis, neuronal, 7 (CLN7)
Swiss-Prot	VAR_058431	Disease	p.THR294LYS	Ceroid lipofuscinosis, neuronal, 7 (CLN7)
Swiss-Prot	VAR_066917	Disease	p.THR458LYS	Ceroid lipofuscinosis, neuronal, 7 (CLN7)
Swiss-Prot	VAR_058428	Disease	p.TYR121CYS	Ceroid lipofuscinosis, neuronal, 7 (CLN7)
Swiss-Prot	VAR_037176	Polymorphism	p.VAL109GLY	N/A
OMIM	611124.0001	Disease	p.GLY310ASP	CEROID LIPOFUSCINOSIS, NEURONAL, 7
OMIM	611124.0002	Disease	p.GLY429ASP	CEROID LIPOFUSCINOSIS, NEURONAL, 7
OMIM	611124.0005	Disease	p.PRO412LEU	CEROID LIPOFUSCINOSIS, NEURONAL, 7
OMIM	611124.0006	Disease	p.THR294LYS	CEROID LIPOFUSCINOSIS, NEURONAL, 7
OMIM	611124.0004	Disease	p.TYR121CYS	CEROID LIPOFUSCINOSIS, NEURONAL, 7
OMIM	611124.0003	Disease	p.TYR298TER	CEROID LIPOFUSCINOSIS, NEURONAL, 7

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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