MSH3 K383Rfs*32 [nucleoplasm]

Stable Identifier
R-HSA-5578664
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
MSH3 c.1148delA
MSH3 K383Rfs*32 [nucleoplasm] icon
Locations in the PathwayBrowser
General

A primary endometrial cancer and in an endometrial carcinoma cell line, Risinger et al. (1996) found a somatic mutation in the MSH3 gene. The mutation resulted in a truncated product and consisted of a single nucleotide deletion, loss of an A/T basepair at position 1148. This change generated a premature nonsense codon 58 amino acids downstream and resulted in a protein 723 amino acids shorter than the wildtype gene product. Single A/T deletion Valine 356 to Valine, GTT to GTG 58 aa later at aa 414 new terminator is introduced.

Literature References
PubMed ID Title Journal Year
8782829 Mutation of MSH3 in endometrial cancer and evidence for its functional role in heteroduplex repair

Umar, A, Risinger, JI, Kunkel, TA, Berchuck, A, Barrett, JC, Boyd, J

Nat. Genet. 1996
External Reference Information
External Reference
Gene Names
MSH3, DUC1, DUG
Chain
chain:1-1137
Reference Transcript
Other Identifiers
11731032_at
11731033_at
16986748
17126222
1719_at
205887_3p_x_at
205887_PM_x_at
205887_x_at
210947_PM_s_at
210947_s_at
2817839
2817840
2817844
2817847
2817848
2817849
2817850
2817851
2817856
2817857
2817858
2817866
2817868
2817870
2817871
2817881
2817882
2817883
2817886
2817887
2817890
2817892
2817895
2817896
2817907
2817908
2817910
2817912
2817913
2817914
2817915
4437
8106633
A_14_P117964
A_14_P122052
A_14_P123827
A_14_P139372
A_23_P122001
A_24_P203479
GE59286
GO:0000166
GO:0002376
GO:0003677
GO:0003690
GO:0003697
GO:0003824
GO:0005515
GO:0005524
GO:0005634
GO:0005654
GO:0006281
GO:0006298
GO:0006310
GO:0006312
GO:0006974
GO:0016020
GO:0016447
GO:0019899
GO:0030983
GO:0032139
GO:0032142
GO:0032181
GO:0032302
GO:0043226
GO:0043570
GO:0045910
GO:0048856
GO:0050896
GO:0051096
GO:0140097
GO:0140299
GO:0140657
GO:0140664
HMNXSV003035413
ILMN_2077130
J04810_s_at
PH_hs_0003124
TC05000400.hg
U61981_at
g181841_3p_a_at
g4505248_3p_at
p33948
Participates
Other forms of this molecule
Modified Residues
Name
Replacement of residues 383 to 413 by RATFLLALWECSLPQARLCLIVSRTLLLVQS
Disease
Name Identifier Synonyms
endometrial cancer DOID:1380 primary malignant neoplasm of endometrium, neoplasm of endometrium (disorder), endometrial neoplasm, malignant endometrial neoplasm, endometrial Ca, malignant neoplasm of endometrium, tumor of Endometrium
Cross References
RefSeq
OpenTargets
GeneCards
PRO
Pharos - Targets
Orphanet
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