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Literature summary for 2.7.11.1 extracted from

  • Yoo, J.H.; Yoo, J.H.; Choi, Y.J.; Kang, J.G.; Sun, Y.K.; Ki, C.S.; Lee, K.A.; Choi, J.R.
    A novel de novo mutation in the serine-threonine kinase STK11 gene in a Korean patient with Peutz-Jeghers syndrome (2008), BMC Med. genet., 9, 44.
    View publication on PubMedView publication on EuropePMC
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Application

Application Comment Organism
medicine the results show the spectrum of mutations of the STK11 gene by identifying a novel de novo mutation in a Peutz-Jeghers syndrome patient and further support the hypothesis that STK11 mutations are disease-causing mutations for Peutz-Jeghers syndrome with or without a positive family history Homo sapiens

Protein Variants

Protein Variants Comment Organism
additional information sequencing of the STK11 gene of a patient suffering from Peutz-Jeghers syndrome reveals a novel 1-base pair deletion of guanine (G) in exon 6 (c.826delG; Gly276AlafsX11). This mutation results in a premature termination at codon 286, predicting a partial loss of the kinase domain and complete loss of the C-terminal domain. This mutation is not found in both parents and is therefore considered as a novel de novo mutation Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens Q15831
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Synonyms

Synonyms Comment Organism
serine-threonine kinase
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 Homo sapiens
STK11
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 Homo sapiens