PSEN1 (GeneID: 5663) | Homo sapiens
Description: presenilin 1 [Source:HGNC Symbol;Acc:HGNC:9508]
Synonyms: PS1, AD3, PS-1, S182, FAD
Other ID(s): HGNC:9508, ENSG00000080815
Protein Accession Numbers: ENST00000559361, ENST00000406768, ENST00000556066, ENST00000557293, ENST00000357710, ENST00000555254, NP_000012, ENST00000324501, ENST00000553719, ENST00000556864, ENST00000557511, ENST00000394164, ENST00000556011, ENST00000557037, ENST00000344094, ENST00000554131, ENST00000560005, ENST00000261970, ENST00000553599, ENST00000556533, ENST00000557356, ENST00000394157, ENST00000555386, ENST00000556951, NP_015557, ENST00000324501.5, ENST00000553855
Statistics: gnomAD(504) COSMIC(418) PTM(24)
Post translational modifications (PTM) by Type

∙ 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.
ENST00000261970 ENST00000324501 ENST00000344094 ENST00000357710 ENST00000394157 ENST00000394164 ENST00000406768 ENST00000553599 ENST00000553719 ENST00000553855 ENST00000554131 ENST00000555254 ENST00000555386 ENST00000556011 ENST00000556066 ENST00000556533 ENST00000556864 ENST00000556951 ENST00000557037 ENST00000557293 ENST00000557356 ENST00000557511 ENST00000559361 ENST00000560005


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
NO DOMAINS EXIST

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 ; 0.49 0.69
Amyloidosis Nutritional and Metabolic Diseases ; 0.49 0.69
Asphyxia Neonatorum Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.49 0.69
Cardiomyopathy, Dilated Cardiovascular Diseases ; 0.49 0.69
Cognition Disorders Mental Disorders ; 0.49 0.69
Presenile dementia Nervous System Diseases ; Mental Disorders ; 0.49 0.69
Mental Depression Behavior and Behavior Mechanisms ; 0.49 0.69
Depressive disorder Mental Disorders ; 0.49 0.69
Learning Disorders Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Mental Disorders ; 0.49 0.69
Memory Disorders Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; 0.49 0.69
Nerve Degeneration Pathological Conditions, Signs and Symptoms ; 0.49 0.69
Spastic Paraplegia, Hereditary Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.49 0.69
Splenomegaly Pathological Conditions, Signs and Symptoms ; 0.49 0.69
Memory impairment Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; 0.49 0.69
Pick Disease of the Brain Nervous System Diseases ; Mental Disorders ; 0.49 0.69
Conduction disorder of the heart Cardiovascular Diseases ; 0.49 0.69
Degenerative Diseases, Central Nervous System Nervous System Diseases ; 0.49 0.69
Familial Alzheimer Disease (FAD) Nervous System Diseases ; Mental Disorders ; 0.49 0.69
Frontotemporal dementia Nervous System Diseases ; Nutritional and Metabolic Diseases ; Mental Disorders ; 0.49 0.69
Semantic Dementia Nervous System Diseases ; Nutritional and Metabolic Diseases ; Mental Disorders ; 0.49 0.69
Familial dilated cardiomyopathy Cardiovascular Diseases ; 0.49 0.69
Alzheimer Disease, Late Onset Nervous System Diseases ; Mental Disorders ; 0.49 0.69
Pallidopontonigral degeneration Nervous System Diseases ; Nutritional and Metabolic Diseases ; Mental Disorders ; 0.49 0.69
Neurodegenerative Disorders Nervous System Diseases ; 0.49 0.69
Acute Confusional Senile Dementia Nervous System Diseases ; Mental Disorders ; 0.49 0.69
Alzheimer's Disease, Focal Onset Nervous System Diseases ; Mental Disorders ; 0.49 0.69
Alzheimer Disease, Early Onset Nervous System Diseases ; Mental Disorders ; 0.49 0.69
Adult Learning Disorders Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Mental Disorders ; 0.49 0.69
Learning Disturbance Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Mental Disorders ; 0.49 0.69
Learning Disabilities Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Mental Disorders ; 0.49 0.69
Age-Related Memory Disorders Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; 0.49 0.69
Memory Disorder, Semantic Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; 0.49 0.69
Memory Disorder, Spatial Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; 0.49 0.69
Memory Loss Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; 0.49 0.69
Primary Progressive Nonfluent Aphasia Nervous System Diseases ; Nutritional and Metabolic Diseases ; Pathological Conditions, Signs and Symptoms ; Mental Disorders ; 0.49 0.69
Degenerative Diseases, Spinal Cord Nervous System Diseases ; 0.49 0.69
Developmental Academic Disorder Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Mental Disorders ; 0.49 0.69
Cardiomyopathy, Familial Idiopathic Cardiovascular Diseases ; 0.49 0.69
Pick Complex Nervous System Diseases ; Nutritional and Metabolic Diseases ; Mental Disorders ; 0.49 0.69
Hidradenitis suppurativa, familial Bacterial Infections and Mycoses ; Skin and Connective Tissue Diseases ; 0.49 0.69
Alzheimer disease, familial, type 3 Nervous System Diseases ; Mental Disorders ; 0.49 0.69
Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Unusual Plaques Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Mental Disorders ; 0.49 0.69
Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ; 0.49 0.69
Cardiomyopathy, Dilated, 1u Cardiovascular Diseases ; 0.49 0.69
Intellectual Disability Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ; 0.49 0.69
Behavioral variant of frontotemporal dementia N/A 0.49 0.69
NO RESULT FOUND
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