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Protein Ontology Report - hPSEN1/var:I167del

PR:000037613 - http://purl.obolibrary.org/obo/PR_000037613
Ontology Information
PRO ID PR:000037613 Show OBO stanza / PAF
PRO name presenilin-1 sequence variant I167del (human)
Synonyms
PRO-short-label: hPSEN1/var:I167del
PRO-proteoform-std: UniProtKB:P49768-1, 1-166, 168-467
Definition A presenilin-1 sequence variant (human) that has a single-residue deletion at the position equivalent to Ile-167 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, 1-166, 168-467. [Alzforum:KD, PMID:24650794, PRO:DAN]
Comment Requested by=Alzforum.
PRO Category organism-sequence
Parent PR:000036285 presenilin-1 sequence variant (human)
Term Hierarchy Visualization DAG     OLS     Cytoscape


Interactive Sequence View Select/align proteoforms across species

Protein Forms
PRO ID & Category Annotation Complex Name Short Label Definition & Comment

Functional Annotation
PRO Term GO Annotation Evidence
PR:000037613
hPSEN1/var:I167del
associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-i167del

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