MUTYH-3 A459D [nucleoplasm]

Stable Identifier
R-HSA-9606282
Type
Genes and Transcripts [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
nucleoplasm
Synonyms
MUTYH-3 Ala459Asp, MUTYH alpha-3 A459D, MUTYH alpha-3 Ala459Asp
Locations in the PathwayBrowser
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Literature References
PubMed ID Title Journal Year
16134146 A novel functionally deficient MYH variant in individuals with colorectal adenomatous polyposis

Aaltonen, LA, Karhu, A, Enholm, S, Alhopuro, P, Järvinen, HJ, Parker, AR, Eshleman, JR, Mecklin, JP, Lehtonen, R

Hum. Mutat. 2005
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 W138_M139insIW [nucleoplasm]
MUTYH-3 R231H [nucleoplasm]
MUTYH-3 Y165C [nucleoplasm]
MUTYH-3 E466* [nucleoplasm]
MUTYH-3 R260Q [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-alanine 459 replaced with L-aspartic acid
Coordinate
459
PsiMod
L-aspartic acid residue [MOD:00013]
A protein modification that effectively converts a source amino acid residue to an L-aspartic acid.
L-alanine removal [MOD:01631]
A protein modification that effectively removes or replaces an L-alanine.
Disease
Name Identifier Synonyms
familial adenomatous polyposis DOID:0050424 adenomatous polyposis of the colon
colorectal cancer DOID:9256
Cross References
RefSeq
OpenTargets
GeneCards
HPA
Ensembl
PRO
Pharos - Targets
Orphanet
PDB
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