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Results for the Protein: Q8NHS3
74730313

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
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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 ↕
ProPCOG04774e-0736488
MFScd061743.7e-7339503
Sugar_trpfam000830.0003442445
MFS_1pfam076901.5e-1742469

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_058430Diseasep.ALA157PROCeroid lipofuscinosis, neuronal, 7 (CLN7)
dbSNPrs3733319 Polymorphismp.ALA423VALN/A
Swiss-ProtVAR_066918Diseasep.ARG465GLNCeroid lipofuscinosis, neuronal, 7 (CLN7)
Swiss-ProtVAR_058429Diseasep.ARG139HISCeroid lipofuscinosis, neuronal, 7 (CLN7)
Swiss-ProtVAR_058433Diseasep.ARG465TRPCeroid lipofuscinosis, neuronal, 7 (CLN7)
dbSNPrs11098943 Polymorphismp.GLY385ARGN/A
Swiss-ProtVAR_058427Diseasep.GLY52ARGCeroid lipofuscinosis, neuronal, 7 (CLN7)
Swiss-ProtVAR_037177Diseasep.GLY310ASPCeroid lipofuscinosis, neuronal, 7 (CLN7)
Swiss-ProtVAR_037180Diseasep.GLY429ASPCeroid lipofuscinosis, neuronal, 7 (CLN7)
Swiss-ProtVAR_066919Diseasep.MET470VALCeroid lipofuscinosis, neuronal, 7 (CLN7)
Swiss-ProtVAR_058432Diseasep.PRO447LEUCeroid lipofuscinosis, neuronal, 7 (CLN7)
Swiss-ProtVAR_066916Diseasep.THR160ASNCeroid lipofuscinosis, neuronal, 7 (CLN7)
Swiss-ProtVAR_066915Diseasep.THR160ILECeroid lipofuscinosis, neuronal, 7 (CLN7)
Swiss-ProtVAR_058431Diseasep.THR294LYSCeroid lipofuscinosis, neuronal, 7 (CLN7)
Swiss-ProtVAR_066917Diseasep.THR458LYSCeroid lipofuscinosis, neuronal, 7 (CLN7)
Swiss-ProtVAR_058428Diseasep.TYR121CYSCeroid lipofuscinosis, neuronal, 7 (CLN7)
Swiss-ProtVAR_037176Polymorphismp.VAL109GLYN/A
OMIM611124.0001 Diseasep.GLY310ASPCEROID LIPOFUSCINOSIS, NEURONAL, 7
OMIM611124.0002 Diseasep.GLY429ASPCEROID LIPOFUSCINOSIS, NEURONAL, 7
OMIM611124.0005 Diseasep.PRO412LEUCEROID LIPOFUSCINOSIS, NEURONAL, 7
OMIM611124.0006 Diseasep.THR294LYSCEROID LIPOFUSCINOSIS, NEURONAL, 7
OMIM611124.0004 Diseasep.TYR121CYSCEROID LIPOFUSCINOSIS, NEURONAL, 7
OMIM611124.0003 Diseasep.TYR298TERCEROID LIPOFUSCINOSIS, NEURONAL, 7



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