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Results for the Protein: Q9UBY8
145559455

CLN8_HUMAN RecName: Full=Protein CLN8

Known Diseases associated with this Protein:
  CEROID LIPOFUSCINOSIS, NEURONAL, 8
  CEROID LIPOFUSCINOSIS, NEURONAL, 8 (CLN8)
  CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT
  CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT (CLN8NE)
21
2
4
1
18
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Default View:

TLC - smart00724
TRAM_LAG1_CLN8 - pfam03798


Swiss-Prot Protein: Q9UBY8
Identical to: NP_061764
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
TLCsmart007242e-3962262

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_060573Diseasep.ALA30PROCeroid lipofuscinosis, neuronal, 8 (CLN8)
Swiss-ProtVAR_013175Polymorphismp.ALA155VALN/A
Swiss-ProtVAR_026556Diseasep.ARG204CYSCeroid lipofuscinosis, neuronal, 8 (CLN8)
Swiss-ProtVAR_013174Diseasep.ARG24GLYCeroid lipofuscinosis, neuronal, 8, Northern epilepsy variant (CLN8NE)
Swiss-ProtVAR_066920Diseasep.ARG70HISCeroid lipofuscinosis, neuronal, 8 (CLN8)
Swiss-ProtVAR_066923Diseasep.ASN125SERCeroid lipofuscinosis, neuronal, 8 (CLN8)
Swiss-ProtVAR_060575Diseasep.GLN194ARGCeroid lipofuscinosis, neuronal, 8 (CLN8)
Swiss-ProtVAR_066921Diseasep.GLN76ARGCeroid lipofuscinosis, neuronal, 8 (CLN8)
Swiss-ProtVAR_066928Diseasep.GLU269VALCeroid lipofuscinosis, neuronal, 8 (CLN8)
Swiss-ProtVAR_058439Diseasep.GLY237ARGCeroid lipofuscinosis, neuronal, 8 (CLN8)
Swiss-ProtVAR_066926Diseasep.GLY221SERCeroid lipofuscinosis, neuronal, 8 (CLN8)
Swiss-ProtVAR_066924Diseasep.HIS139TYRCeroid lipofuscinosis, neuronal, 8 (CLN8)
dbSNPrs34030778 Polymorphismp.HIS92TYRN/A
Swiss-ProtVAR_066922Diseasep.ILE107SERCeroid lipofuscinosis, neuronal, 8 (CLN8)
Swiss-ProtVAR_026554Diseasep.LEU16METCeroid lipofuscinosis, neuronal, 8 (CLN8)
Swiss-ProtVAR_066927Diseasep.PRO229ALACeroid lipofuscinosis, neuronal, 8 (CLN8)
Swiss-ProtVAR_026555Diseasep.THR170METCeroid lipofuscinosis, neuronal, 8 (CLN8)
Swiss-ProtVAR_026557Diseasep.TRP263CYSCeroid lipofuscinosis, neuronal, 8 (CLN8)
Swiss-ProtVAR_058438Diseasep.TYR158CYSCeroid lipofuscinosis, neuronal, 8 (CLN8)
OMIM607837.0005 Diseasep.ALA30PROCEROID LIPOFUSCINOSIS, NEURONAL, 8
OMIM607837.0003 Diseasep.ARG204CYSCEROID LIPOFUSCINOSIS, NEURONAL, 8
OMIM607837.0001 Diseasep.ARG24GLYCEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT
OMIM607837.0002 Diseasep.TRP263CYSCEROID LIPOFUSCINOSIS, NEURONAL, 8



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