MUTYH-3 A368fs*26 [nucleoplasm]

Stable Identifier
R-HSA-9606455
Type
Genes and Transcripts [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
nucleoplasm
Synonyms
MUTYH-3 Ala368fs*26, MUTYH-3 c.1103delC, MUTYH alpha-3 A368fs*26, MUTYH alpha-3 Ala368fs*26, MUTYH alpha-3 c.1103delC
Locations in the PathwayBrowser
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Literature References
PubMed ID Title Journal Year
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
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
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 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 R227W [nucleoplasm]
MUTYH-3 V232F [nucleoplasm]
MUTYH-3 Q324R [nucleoplasm]
MUTYH-3 G272E [nucleoplasm]
Modified Residues
Name
Replacement of residues 368 to 535 by ALGPKFCWCRGPTQVCWQDCGSSRP
Disease
Name Identifier Synonyms
familial adenomatous polyposis DOID:0050424 adenomatous polyposis of the colon
colorectal cancer DOID:9256
Cross References
RefSeq
OpenTargets
ENSEMBL
Mondo
GeneCards
HPA
PRO
Pharos - Targets
Orphanet
PDB
Interactors (1)
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