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Literature summary for 2.7.11.1 extracted from

  • Abidi, F.; Jacquot, S.; Lassiter, C.; Trivier, E.; Hanauer, A.; Schwartz, C.E.
    Novel mutations in Rsk-2, the gene for Coffin-Lowry syndrome (CLS) (1999), Eur. J. Hum. Genet., 7, 20-26.
    View publication on PubMed

Protein Variants

Protein Variants Comment Organism
additional information R114W mutation falls just outside the N-terminal ATP-binding site in a highly conserved region of the protein and may lead to structural changes since tryptophan has an aromatic side chain whereas arginine is a 5 carbon basic amino acid, missense mutation R729Q, 2bp deletion (AG) of bases 451 and 452 creates a frameshift that results in a stop codon 25 amino acids downstream, thereby producing a truncated protein. This deletion also falls within the highly conserved amino-catalytic domain of the protein. Nonsense mutation (C2065T) which results in a premature stop codon, thereby producing a truncated protein. These mutations further confirm Rsk-2 as the gene involved in CLS and may help in understanding the structure and function of the protein Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
additional information Homo sapiens mutations in the ribosomal S6 kinase (Rsk-2) gene are associated with Coffin-Lowry syndrome, an X-linked disorder characterized by facial dysmorphism, digit abnormalities and severe psychomotor retardation ?
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Organism

Organism UniProt Comment Textmining
Homo sapiens P51812
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Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
additional information mutations in the ribosomal S6 kinase (Rsk-2) gene are associated with Coffin-Lowry syndrome, an X-linked disorder characterized by facial dysmorphism, digit abnormalities and severe psychomotor retardation Homo sapiens ?
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?

Synonyms

Synonyms Comment Organism
ribosomal protein S6 kinase alpha 3
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Homo sapiens
ribosomal S6 kinase (Rsk-2)
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Homo sapiens