MUTYH-3 R260Q [nucleoplasm]

Stable Identifier
R-HSA-9606359
Type
Genes and Transcripts [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
nucleoplasm
Synonyms
MUTYH-3 Arg260Gln, MUTYH alpha-3 R260Q, MUTYH alpha-3 Arg260Gln
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
19443904 Catalytically impaired hMYH and NEIL1 mutant proteins identified in patients with primary sclerosing cholangitis and cholangiocarcinoma

Forsbring, M, Boberg, KM, Bergquist, A, Schrumpf, E, Karlsen, TH, Dalhus, B, Vik, ES, Bjørås, M, Alseth, I

Carcinogenesis 2009
External Reference Information
External Reference
UniProt:Q9UIF7-3 MUTYH
Gene Names
MUTYH, MYH
Other Identifiers
11734568_a_at
16686401
207727_PM_s_at
207727_s_at
2410112
2410113
2410120
2410123
2410124
2410126
2410127
2410128
2410130
2410131
2410133
2410134
2410135
2410137
2410139
2410141
2410142
2410143
2410144
2410145
2410147
2410149
2410150
2410151
2410152
2410153
4595
489_at
490_g_at
7915695
A_23_P51660
A_24_P910898
GE80793
GO:0000701
GO:0003677
GO:0003824
GO:0005515
GO:0005634
GO:0005654
GO:0005739
GO:0006281
GO:0006284
GO:0006298
GO:0006950
GO:0006974
GO:0008152
GO:0012501
GO:0016787
GO:0016798
GO:0019104
GO:0032357
GO:0032407
GO:0034039
GO:0035485
GO:0043226
GO:0045007
GO:0046872
GO:0051536
GO:0051539
GO:0060546
GO:0140097
HMNXSV003054539
ILMN_2277537
ILMN_2336970
PH_hs_0013965
TC01002607.hg
U63329_at
g6912519_3p_a_at
Participates
as a member of
Other forms of this molecule
MUTYH-3 A359V [nucleoplasm]
MUTYH-3 R171W [nucleoplasm]
MUTYH-3 G272E [nucleoplasm]
MUTYH-3 Q324R [nucleoplasm]
MUTYH-3 V232F [nucleoplasm]
MUTYH-3 R227W [nucleoplasm]
MUTYH-3 A368fs*26 [nucleoplasm]
MUTYH-3 E466del [nucleoplasm]
MUTYH-3 P391L [nucleoplasm]
MUTYH-3 Q377* [nucleoplasm]
MUTYH-3 A459D [nucleoplasm]
MUTYH-3 W138_M139insIW [nucleoplasm]
MUTYH-3 R231H [nucleoplasm]
MUTYH-3 Y165C [nucleoplasm]
MUTYH-3 E466* [nucleoplasm]
MUTYH-3 Q324H [nucleoplasm]
MUTYH-3 G382D [nucleoplasm]
MUTYH-3 Y90* [nucleoplasm]
MUTYH-3 P281L [nucleoplasm]
MUTYH-3 R231L [nucleoplasm]
MUTYH-3 R260W [nucleoplasm]
MUTYH-3 A359S [nucleoplasm]
MUTYH-3 [nucleoplasm]
Modified Residues
Name
L-arginine 260 replaced with L-glutamine
Coordinate
260
PsiMod
L-arginine removal [MOD:01632]
A protein modification that effectively removes or replaces an L-arginine.
L-glutamine residue [MOD:00016]
A protein modification that effectively converts a source amino acid residue to an L-glutamine.
Disease
Name Identifier Synonyms
familial adenomatous polyposis DOID:0050424 adenomatous polyposis of the colon
colorectal cancer DOID:9256
cholangiocarcinoma DOID:4947 cholangiosarcoma, adult primary Cholangiocarcinoma, adult primary cholangiocellular carcinoma
stomach cancer DOID:10534 malignant neoplasm of greater curvature of stomach, unspecified, malignant neoplasm of lesser curvature of stomach, NOS, malignant tumor of body of stomach (disorder), neoplasm of stomach (disorder), Ca lesser curvature - stomach (disorder), malignant neoplasm of greater curve of stomach unspecified (disorder), Ca body - stomach, ca lesser curvature of stomach, ca greater curvature of stomach, malignant neoplasm of lesser curvature of stomach, unspecified, malignant tumor of lesser curve of stomach (disorder), malignant neoplasm of body of stomach, gastric neoplasm, malignant neoplasm of greater curvature of stomach, NOS, Ca body - stomach (disorder), stomach neoplasm, Ca greater curvature - stomach (disorder), malignant neoplasm of lesser curve of stomach unspecified (disorder), malignant tumor of greater curve of stomach (disorder)
primary sclerosing cholangitis DOID:0060643
Cross References
RefSeq
COSMIC
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Ensembl
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