MUTYH-3 Q324H [nucleoplasm]

Stable Identifier
R-HSA-9606417
Type
Genes and Transcripts [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
nucleoplasm
Synonyms
MUTYH-3 Gln324His, MUTYH alpha-3 Q324H, MUTYH alpha-3 Gln324His
Locations in the PathwayBrowser
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Literature References
PubMed ID Title Journal Year
18534194 Characterization of mutant MUTYH proteins associated with familial colorectal cancer

Ali, M, Kim, H, Cleary, S, Cupples, C, Gallinger, S, Bristow, R

Gastroenterology 2008
22926731 Cancer-associated variants and a common polymorphism of MUTYH exhibit reduced repair of oxidative DNA damage using a GFP-based assay in mammalian cells

Raetz, AG, Xie, Y, Kundu, S, Brinkmeyer, MK, Chang, C, David, SS

Carcinogenesis 2012
External Reference Information
External Reference
UniProt:Q9UIF7-3 MUTYH
Gene Names
MUTYH, MYH
Participates
as a member of
Other forms of this molecule
MUTYH-3 A359V [nucleoplasm]
MUTYH-3 R171W [nucleoplasm]
MUTYH-3 [nucleoplasm]
MUTYH-3 A359S [nucleoplasm]
MUTYH-3 R260W [nucleoplasm]
MUTYH-3 R231L [nucleoplasm]
MUTYH-3 P281L [nucleoplasm]
MUTYH-3 Y90* [nucleoplasm]
MUTYH-3 G382D [nucleoplasm]
MUTYH-3 R260Q [nucleoplasm]
MUTYH-3 E466* [nucleoplasm]
MUTYH-3 Y165C [nucleoplasm]
MUTYH-3 R231H [nucleoplasm]
MUTYH-3 W138_M139insIW [nucleoplasm]
MUTYH-3 A459D [nucleoplasm]
MUTYH-3 Q377* [nucleoplasm]
MUTYH-3 P391L [nucleoplasm]
MUTYH-3 E466del [nucleoplasm]
MUTYH-3 A368fs*26 [nucleoplasm]
MUTYH-3 R227W [nucleoplasm]
MUTYH-3 V232F [nucleoplasm]
MUTYH-3 Q324R [nucleoplasm]
MUTYH-3 G272E [nucleoplasm]
Modified Residues
Name
L-glutamine 324 replaced with L-histidine
Coordinate
324
PsiMod
L-glutamine removal [MOD:01637]
A protein modification that effectively removes or replaces an L-glutamine.
L-histidine residue [MOD:00018]
A protein modification that effectively converts a source amino acid residue to an L-histidine.
Disease
Name Identifier Synonyms
familial adenomatous polyposis DOID:0050424 adenomatous polyposis of the colon
colorectal cancer DOID:9256
Cross References
Mondo
Interactors (1)
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