PSEN2 (GeneID: 698770) | Macaca mulatta
Description: presenilin 2 [Source:NCBI gene;Acc:698770]
Synonyms:
Other ID(s): ENSMMUG00000018525
Protein Accession Numbers: XP_014969880, XP_014969854, XP_014969869, XP_014969846, XP_014969860, NP_001248546
Statistics: ClinVar(99) gnomAD(444) COSMIC(230) PTM(13)
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.
ENST00000340188 ENST00000366782 ENST00000366783 ENST00000391872 ENST00000422240 You are here now! ENST00000460775 ENST00000472139 ENST00000495488 ENST00000496965 ENST00000524196 NP_000438 NP_036618 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
PF01080 Presenilin Presenilin 82-331 CL0130 Peptidase_AD Homo sapiens
PF01080 Presenilin Presenilin 320-438 CL0130 Peptidase_AD 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 ; 0.567 0.517
Asphyxia Neonatorum Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.567 0.517
Bipolar Disorder Mental Disorders ; 0.567 0.517
Cardiomyopathy, Dilated Cardiovascular Diseases ; 0.567 0.517
Presenile dementia Nervous System Diseases ; Mental Disorders ; 0.567 0.517
Schizophrenia Mental Disorders ; 0.567 0.517
Conduction disorder of the heart Cardiovascular Diseases ; 0.567 0.517
Familial Alzheimer Disease (FAD) Nervous System Diseases ; Mental Disorders ; 0.567 0.517
Familial dilated cardiomyopathy Cardiovascular Diseases ; 0.567 0.517
Alzheimer Disease, Late Onset Nervous System Diseases ; Mental Disorders ; 0.567 0.517
Acute Confusional Senile Dementia Nervous System Diseases ; Mental Disorders ; 0.567 0.517
Alzheimer's Disease, Focal Onset Nervous System Diseases ; Mental Disorders ; 0.567 0.517
Alzheimer Disease, Early Onset Nervous System Diseases ; Mental Disorders ; 0.567 0.517
Cardiomyopathy, Familial Idiopathic Cardiovascular Diseases ; 0.567 0.517
ALZHEIMER DISEASE 4 Nervous System Diseases ; Mental Disorders ; 0.567 0.517
Cardiomyopathy, Dilated, 1V Cardiovascular Diseases ; 0.567 0.517
NO RESULT FOUND
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