MUTYH-3 R171W [nucleoplasm]

Stable Identifier
R-HSA-9606565
Type
Genes and Transcripts [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
MUTYH-3 Arg171Trp, MUTYH alpha-3 R171W, MUTYH alpha-3 Arg171Trp
Locations in the PathwayBrowser
Literature References
PubMed ID Title Journal Year
20418187 Functional analysis of MUTYH mutated proteins associated with familial adenomatous polyposis

Albertini, AM, Bossa, C, Mazzei, F, Ranzani, GN, D'Agostino, VG, Torreri, P, Marinoni, I, Minoprio, A, Bignami, M, Petrucci, TC

DNA Repair (Amst.) 2010
19953527 MUTYH mutations associated with familial adenomatous polyposis: functional characterization by a mammalian cell-based assay

Degan, P, Barone, F, Albertini, AM, Mazzei, F, Molatore, S, D'Agostino, VG, Russo, MT, Ranzani, GN, Minoprio, A, Matsumoto, Y, Bignami, M

Hum. Mutat. 2010
External Reference Information
External Reference
Gene Names
MUTYH, MYH
Participates
Other forms of this molecule
Modified Residues
Name
L-arginine 171 replaced with L-tryptophan
Coordinate
171
PsiMod
A protein modification that effectively converts a source amino acid residue to L-tryptophan.
A protein modification that effectively removes or replaces an L-arginine.
Disease
Name Identifier Synonyms
familial adenomatous polyposis DOID:0050424 adenomatous polyposis of the colon
colorectal cancer DOID:9256
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