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MUTYH binding LOF mutants [nucleoplasm]
Stable Identifier
R-HSA-9608300
Type
Set [DefinedSet]
Species
Homo sapiens
Compartment
nucleoplasm
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of DNA repair (Homo sapiens)
Diseases of Base Excision Repair (Homo sapiens)
Defective Base Excision Repair Associated with MUTYH (Homo sapiens)
Defective MUTYH substrate binding (Homo sapiens)
Defective MUTYH mutants do not bind adenine mispaired with 8-oxoguanine (Homo sapiens)
MUTYH binding LOF mutants [nucleoplasm] (Homo sapiens)
Participants
members
MUTYH-3 Y165C [nucleoplasm]
(Homo sapiens)
MUTYH-3 G382D [nucleoplasm]
(Homo sapiens)
MUTYH-3 R227W [nucleoplasm]
(Homo sapiens)
MUTYH-3 V232F [nucleoplasm]
(Homo sapiens)
MUTYH-3 R231L [nucleoplasm]
(Homo sapiens)
MUTYH-3 R231H [nucleoplasm]
(Homo sapiens)
MUTYH-3 R260Q [nucleoplasm]
(Homo sapiens)
MUTYH-3 P281L [nucleoplasm]
(Homo sapiens)
MUTYH-3 A368fs*26 [nucleoplasm]
(Homo sapiens)
MUTYH-3 E466* [nucleoplasm]
(Homo sapiens)
MUTYH-3 Q377* [nucleoplasm]
(Homo sapiens)
MUTYH-3 Y90* [nucleoplasm]
(Homo sapiens)
Participates
as an input of
Defective MUTYH mutants do not bind adenine mispaired with 8-oxoguanine (Homo sapiens)
Disease
Name
Identifier
Synonyms
familial adenomatous polyposis
DOID:0050424
adenomatous polyposis of the colon
colorectal cancer
DOID:9256
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