PRNP (GeneID: 717859) | Macaca mulatta
Description: prion protein [Source:NCBI gene;Acc:717859]
Synonyms:
Other ID(s): ENSMMUG00000019949
Protein Accession Numbers: XP_015004848, XP_015004851, XP_015004847, XP_015004849, NP_001040617
Statistics: ClinVar(280) gnomAD(478) COSMIC(186) PTM(6)
ClinVar Pathogenicity of Variations help

∙ Please click the name of species for the protein accession number used in the alignment.
∙ A p letter used as a pointer to positions of post translational modifications in human.
∙ Protein domains illustrated above belong to Homo sapiens (Human).
∙ ClinVar stacked bar chart represents whole protein isoforms of the gene. Please, check the other protein isoforms of the gene below.
∙ If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000379440 You are here now! ENST00000424424 ENST00000430350 You are here now! ENST00000457586 NP_000302 You are here now! NP_001073590 You are here now! NP_001073591 You are here now! NP_001073592 You are here now! NP_001258490 NP_898902 You are here now!


import_contactsClinVar Data
Variation ID filter_list Allele ID filter_list RS Number filter_list Variant Type filter_list Record filter_list Alteration filter_list Clinicial Sig. filter_list Last Update filter_list Phenotypes filter_list Cytogenetic filter_list Review Status filter_list RCV Acc.N. filter_list

healinggnomAD
Variant ID filter_list Transcript ID filter_list Alteration filter_list Annotation filter_list Allele C. filter_list Allele N. filter_list Allele F. filter_list rsNumber filter_list Flagsfilter_list Filter filter_list

placePost-translational Modifications (PTMs)
Gene Name filter_list ACC ID filter_list PTM Type filter_list Position filter_list Mod-rsd filter_list Site +/-7 Aa filter_list Mw_kd filter_list Site grpID filter_list

blur_onCatalogue of Somatic Mutations in Cancer (COSMIC)
Gene Name filter_list Transcript ID filter_list Sample name filter_list Primary Site filter_list Primary Histology filter_list Mutation ID filter_list Mutation CDS filter_list Mutation Aa filter_list Mutation Desc. filter_list FATHMM Prediction filter_list FATHMM Score filter_list Mutation Somatic Status filter_list PUBMED PMID filter_list Tumor Origin filter_list Position filter_list

chrome_reader_modedbSNP
Gene ID filter_list Transcript ID filter_list Consequence filter_list Position filter_list HGVSp filter_list Impact filter_list

format_align_centerProtein Domains (PFAM)
Pfam Domain filter_list Domain Name filter_list Description filter_list Positions filter_list Clan filter_list Clan Name filter_list Organism filter_list
NO RESULT FOUND
PF00377 Prion Prion/Doppel alpha-helical domain 134-252 Homo sapiens
PF11587 Prion_bPrPp Major prion protein bPrPp - N terminal 1-28 Homo sapiens

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Alzheimer's Disease Nervous System Diseases ; Mental Disorders ; 0.474 0.897
Ataxias, Hereditary Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.474 0.897
Charcot-Marie-Tooth Disease Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.474 0.897
Presenile dementia Nervous System Diseases ; Mental Disorders ; 0.474 0.897
Depressive disorder Mental Disorders ; 0.474 0.897
Dysautonomia, Familial Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.474 0.897
Gerstmann-Straussler-Scheinker Disease Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.474 0.897
Hepatolenticular Degeneration Digestive System Diseases ; Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; 0.474 0.897
Creutzfeldt-Jakob disease Nervous System Diseases ; Mental Disorders ; 0.474 0.897
Kuru Nervous System Diseases ; 0.474 0.897
Liver Cirrhosis, Experimental Digestive System Diseases ; 0.474 0.897
Malignant neoplasm of stomach Neoplasms ; Digestive System Diseases ; 0.474 0.897
Necrosis Pathological Conditions, Signs and Symptoms ; 0.474 0.897
Neoplasm Metastasis Neoplasms ; Pathological Conditions, Signs and Symptoms ; 0.474 0.897
Neoplasms, Experimental Neoplasms ; 0.474 0.897
Prostatic Neoplasms Neoplasms ; Male Urogenital Diseases ; 0.474 0.897
Scrapie Nervous System Diseases ; Animal Diseases ; 0.474 0.897
Stomach Neoplasms Neoplasms ; Digestive System Diseases ; 0.474 0.897
Prion Diseases Nervous System Diseases ; 0.474 0.897
Fatal Familial Insomnia Nervous System Diseases ; 0.474 0.897
Familial Alzheimer Disease (FAD) Nervous System Diseases ; Mental Disorders ; 0.474 0.897
New Variant Creutzfeldt-Jakob Disease Nervous System Diseases ; Mental Disorders ; 0.474 0.897
Malignant neoplasm of prostate Neoplasms ; Male Urogenital Diseases ; 0.474 0.897
Pain Disorder Mental Disorders ; 0.474 0.897
Alzheimer Disease, Late Onset Nervous System Diseases ; Mental Disorders ; 0.474 0.897
Mood Disorders Mental Disorders ; 0.474 0.897
Acute Confusional Senile Dementia Nervous System Diseases ; Mental Disorders ; 0.474 0.897
Alzheimer's Disease, Focal Onset Nervous System Diseases ; Mental Disorders ; 0.474 0.897
Alzheimer Disease, Early Onset Nervous System Diseases ; Mental Disorders ; 0.474 0.897
Creutzfeldt-Jakob Disease, Familial Nervous System Diseases ; Mental Disorders ; 0.474 0.897
Human Transmissible Spongiform Encephalopathies, Inherited Nervous System Diseases ; 0.474 0.897
Atypical Inclusion-Body Disease Nervous System Diseases ; 0.474 0.897
Familial Progressive Myoclonic Epilepsy Nervous System Diseases ; 0.474 0.897
Myoclonic Epilepsies, Progressive Nervous System Diseases ; 0.474 0.897
Action Myoclonus-Renal Failure Syndrome Nervous System Diseases ; 0.474 0.897
Biotin-Responsive Encephalopathy Nervous System Diseases ; 0.474 0.897
Dentatorubral-Pallidoluysian Atrophy Nervous System Diseases ; 0.474 0.897
May-White Syndrome Nervous System Diseases ; 0.474 0.897
Hepatic Form of Wilson Disease Digestive System Diseases ; Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; 0.474 0.897
Hereditary Diffuse Gastric Cancer Neoplasms ; Digestive System Diseases ; 0.474 0.897
SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Mental Disorders ; 0.474 0.897
Creutzfeldt-Jakob Disease, Sporadic Nervous System Diseases ; Mental Disorders ; 0.474 0.897
HUNTINGTON DISEASE-LIKE 1 Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Mental Disorders ; 0.474 0.897
Creutzfeldt-Jakob Disease, Heidenhain Variant Nervous System Diseases ; Eye Diseases ; Pathological Conditions, Signs and Symptoms ; Mental Disorders ; 0.474 0.897
clinical depression N/A 0.474 0.897
Amyloidosis, Cerebral, with Spongiform Encephalopathy Nervous System Diseases ; Mental Disorders ; 0.474 0.897
CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED N/A 0.474 0.897
Familial Alzheimer-like prion disease N/A 0.474 0.897
NO RESULT FOUND
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