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 | 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 | ? | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | P51812 | - |
- |
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 | ? | - |
? |
Synonyms | Comment | Organism |
---|---|---|
ribosomal protein S6 kinase alpha 3 | - |
Homo sapiens |
ribosomal S6 kinase (Rsk-2) | - |
Homo sapiens |