MUTYH-3 R260W [nucleoplasm]

Stable Identifier
R-HSA-9606369
Type
Genes and Transcripts [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
nucleoplasm
Synonyms
MUTYH-3 Arg260Trp, MUTYH alpha-3 R260W, MUTYH alpha-3 Arg260Trp
Locations in the PathwayBrowser
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Literature References
PubMed ID Title Journal Year
25303977 Mutational landscape of aggressive cutaneous squamous cell carcinoma

Pickering, CR, Zhou, JH, Lee, JJ, Drummond, JA, Peng, SA, Saade, RE, Tsai, KY, Curry, JL, Tetzlaff, MT, Lai, SY, Yu, J, Muzny, DM, Doddapaneni, H, Shinbrot, E, Covington, KR, Zhang, J, Seth, S, Caulin, C, Clayman, GL, EL-Naggar, AK, Gibbs, RA, Weber, RS, Myers, JN, Wheeler, DA, Frederick, MJ

Clin. Cancer Res. 2014
25589618 Genomic analysis of metastatic cutaneous squamous cell carcinoma

Li, YY, Hanna, GJ, Laga, AC, Haddad, RI, Lorch, JH, Hammerman, PS

Clin. Cancer Res. 2015
23770606 Frequent mutation of the major cartilage collagen gene COL2A1 in chondrosarcoma

Tarpey, PS, Behjati, S, Cooke, SL, Van Loo, P, Wedge, DC, Pillay, N, Marshall, J, O'Meara, S, Davies, H, Nik-Zainal, S, Beare, D, Butler, A, Gamble, J, Hardy, C, Hinton, J, Jia, MM, Jayakumar, A, Jones, D, Latimer, C, Maddison, M, Martin, S, McLaren, S, Menzies, A, Mudie, L, Raine, K, Teague, JW, Tubio, JM, Halai, D, Tirabosco, R, Amary, F, Campbell, PJ, Stratton, MR, Flanagan, AM, Futreal, PA

Nat. Genet. 2013
External Reference Information
External Reference
UniProt:Q9UIF7-3 MUTYH
Gene Names
MUTYH, MYH
Participates
as a candidate of
Other forms of this molecule
MUTYH-3 A359V [nucleoplasm]
MUTYH-3 R171W [nucleoplasm]
MUTYH-3 [nucleoplasm]
MUTYH-3 A359S [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 V232F [nucleoplasm]
MUTYH-3 Q324R [nucleoplasm]
MUTYH-3 G272E [nucleoplasm]
Modified Residues
Name
L-arginine 260 replaced with L-tryptophan
Coordinate
260
PsiMod
L-tryptophan residue [MOD:00027]
A protein modification that effectively converts a source amino acid residue to L-tryptophan.
L-arginine removal [MOD:01632]
A protein modification that effectively removes or replaces an L-arginine.
Disease
Name Identifier Synonyms
skin melanoma DOID:8923 malignant lip melanoma, malignant ear melanoma, malignant melanoma of ear and/or external auricular canal, cutaneous melanoma, malignant melanoma of skin of trunk except scrotum, malignant neck melanoma, malignant melanoma of skin of upper limb, malignant scalp melanoma, malignant upper limb melanoma, malignant lower limb melanoma, malignant melanoma of skin of lower limb, malignant trunk melanoma
skin squamous cell carcinoma DOID:3151 Epidermoid skin carcinoma, squamous cell carcinoma of skin (disorder)
chondrosarcoma DOID:3371 primary chondrosarcoma of the bone, chondrosarcoma of bone
Cross References
RefSeq
COSMIC
OpenTargets
ENSEMBL
Mondo
GeneCards
HPA
PRO
Pharos - Targets
Orphanet
PDB
Interactors (1)
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