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
Expand all
Literature References
PubMed ID Title Journal Year
25303977 Mutational landscape of aggressive cutaneous squamous cell carcinoma

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

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

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

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

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

Nat. Genet. 2013
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
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
U63329_at
g6912519_3p_a_at
Participates
as a candidate 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 R260Q [nucleoplasm]
MUTYH-3 Q324H [nucleoplasm]
MUTYH-3 G382D [nucleoplasm]
MUTYH-3 Y90* [nucleoplasm]
MUTYH-3 P281L [nucleoplasm]
MUTYH-3 R231L [nucleoplasm]
MUTYH-3 A359S [nucleoplasm]
MUTYH-3 [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
HPA
GeneCards
Ensembl
PRO
Pharos - Targets
Orphanet
PDB
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