MUTYH-3 G382D [nucleoplasm]

Stable Identifier
R-HSA-9605325
Type
Genes and Transcripts [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
nucleoplasm
Synonyms
MUTYH-3 Gly382Asp, MUTYH alpha-3 G382D, MUTYH alpha-3 Gly382Asp
Locations in the PathwayBrowser
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Literature References
PubMed ID Title Journal Year
20418187 Functional analysis of MUTYH mutated proteins associated with familial adenomatous polyposis

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

DNA Repair (Amst.) 2010
15987719 Cells with pathogenic biallelic mutations in the human MUTYH gene are defective in DNA damage binding and repair

Parker, AR, Sieber, OM, Shi, C, Hua, L, Takao, M, Tomlinson, IP, Eshleman, JR

Carcinogenesis 2005
12393807 Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C-->T:A mutations

Jones, S, Emmerson, P, Maynard, J, Best, JM, Jordan, S, Williams, GT, Sampson, JR, Cheadle, JP

Hum. Mol. Genet. 2002
12628248 Insight into the functional consequences of inherited variants of the hMYH adenine glycosylase associated with colorectal cancer: complementation assays with hMYH variants and pre-steady-state kinetics of the corresponding mutated E.coli enzymes

Chmiel, NH, Livingston, AL, David, SS

J. Mol. Biol. 2003
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
19953527 MUTYH mutations associated with familial adenomatous polyposis: functional characterization by a mammalian cell-based assay

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

Hum. Mutat. 2010
19836313 Adenine removal activity and bacterial complementation with the human MutY homologue (MUTYH) and Y165C, G382D, P391L and Q324R variants associated with colorectal cancer

Kundu, S, Brinkmeyer, MK, Livingston, AL, David, SS

DNA Repair (Amst.) 2009
15036665 Identification of critical residues required for the mutation avoidance function of human MutY (hMYH) and implications in colorectal cancer

Wooden, SH, Bassett, HM, Wood, TG, McCullough, AK

Cancer Lett. 2004
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 Q324H [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
glycine 382 replaced with L-aspartic acid
Coordinate
382
PsiMod
glycine removal [MOD:01638]
A protein modification that effectively removes or replaces an glycine.
L-aspartic acid residue [MOD:00013]
A protein modification that effectively converts a source amino acid residue to an L-aspartic acid.
Disease
Name Identifier Synonyms
familial adenomatous polyposis DOID:0050424 adenomatous polyposis of the colon
colorectal cancer DOID:9256
Cross References
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Interactors (1)
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