MUTYH-3 V232F [nucleoplasm]

Stable Identifier
R-HSA-9606264
Type
Genes and Transcripts [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
nucleoplasm
Synonyms
MUTYH-3 Val232Phe, MUTYH alpha-3 V232F, MUTYH alpha-3 Val232Phe
Locations in the PathwayBrowser
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Literature References
PubMed ID Title Journal Year
15673720 Functional characterization of two human MutY homolog (hMYH) missense mutations (R227W and V232F) that lie within the putative hMSH6 binding domain and are associated with hMYH polyposis

Sampson, JR, Wilson, TM, Bai, H, Cheadle, JP, Jones, S, Guan, X, Lu, AL

Nucleic Acids Res. 2005
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 A368fs*26 [nucleoplasm]
MUTYH-3 R227W [nucleoplasm]
MUTYH-3 Q324R [nucleoplasm]
MUTYH-3 G272E [nucleoplasm]
Modified Residues
Name
L-valine 232 replaced with L-phenylalanine
Coordinate
232
PsiMod
L-phenylalanine residue [MOD:00023]
A protein modification that effectively converts a source amino acid residue to L-phenylalanine.
L-valine removal [MOD:01650]
A protein modification that effectively removes or replaces an L-valine.
Disease
Name Identifier Synonyms
familial adenomatous polyposis DOID:0050424 adenomatous polyposis of the colon
colorectal cancer DOID:9256
Cross References
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GeneCards
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Pharos - Targets
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