MUTYH-3 E466* [nucleoplasm]

Stable Identifier
R-HSA-9606420
Type
Genes and Transcripts [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
nucleoplasm
Synonyms
MUTYH-3 Glu466Ter
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, Bristow, R, Gallinger, S, Cleary, S, Kim, H, Cupples, C

Gastroenterology 2008
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 Q324H [nucleoplasm]
MUTYH-3 R260Q [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
Nonsense mutation at L-glutamic acid 466
Coordinate
466
PsiMod
L-glutamic acid removal [MOD:01636]
A protein modification that effectively removes or replaces an L-glutamic acid.
Disease
Name Identifier Synonyms
familial adenomatous polyposis DOID:0050424 adenomatous polyposis of the colon
colorectal cancer DOID:9256
Cross References
ClinGen
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