Gain and loss of phosphorylation sites in human cancer | Zendy

Predrag Radivojac | Zendy; Peter H. Baenziger | Zendy; Maricel G. Kann | Zendy; Matthew Mort | Zendy; Matthew W. Hahn | Zendy; Sean D. Mooney | Zendy

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Gain and loss of phosphorylation sites in human cancer

Author(s) -

Predrag Radivojac,

Peter H. Baenziger,

Maricel G. Kann,

Matthew Mort,

Matthew W. Hahn,

Sean D. Mooney

Publication year - 2008

Publication title -

bioinformatics

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.599

H-Index - 390

eISSN - 1367-4811

pISSN - 1367-4803

DOI - 10.1093/bioinformatics/btn267

Subject(s) - mutation , genetics , biology , dbsnp , phosphorylation , gene , phenotype , germline mutation , somatic cell , coding region , cancer , single nucleotide polymorphism , genotype

Coding-region mutations in human genes are responsible for a diverse spectrum of diseases and phenotypes. Among lesions that have been studied extensively, there are insights into several of the biochemical functions disrupted by disease-causing mutations. Currently, there are more than 60 000 coding-region mutations associated with inherited disease catalogued in the Human Gene Mutation Database (HGMD, August 2007) and more than 70 000 polymorphic amino acid substitutions recorded in dbSNP (dbSNP, build 127). Understanding the mechanism and contribution these variants make to a clinical phenotype is a formidable problem.

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