Search results for UniProt:P20585

Showing 2 results out of 2

×

Species

Types

Compartments

Search properties

  • clustered Search

Species

Types

Compartments

Search properties

  • clustered Search

Results (2 results from a total of 2)

Identifier: R-HSA-5357519
Species: Homo sapiens
Compartment: nucleoplasm
Primary external reference: UniProt: MSH3: UniProt:P20585
Identifier: R-HSA-5578664
Species: Homo sapiens
Compartment: nucleoplasm
Primary external reference: UniProt: MSH3: UniProt:P20585
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.