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Results 1 - 6 of 6
EC Number Protein Variants Commentary Reference
Display the word mapDisplay the reaction diagram Show all sequences 2.7.8.29L265P naturally gain-of-function mutation mutation of PSS1 741056
Display the word mapDisplay the reaction diagram Show all sequences 2.7.8.29P269L naturally gain-of-function mutation mutation of PSS1 741056
Display the word mapDisplay the reaction diagram Show all sequences 2.7.8.29P269S naturally gain-of-function mutation mutation of PSS1 741056
Display the word mapDisplay the reaction diagram Show all sequences 2.7.8.29Q353R naturally gain-of-function mutation mutation of PSS1, which resides in a separate cytosolic domain and has only s slight effect on enzyme activity 741056
Display the word mapDisplay the reaction diagram Show all sequences 2.7.8.29R97K in contrast to the PSS II wild-type transformant, the R97K transformant exhibits 4fold higher phosphatidylserine biosynthetic activity than that in CHO-K1 cells. The phosphatidylserine biosynthesis in the R97K transformant is not inhibited at all but elevated by the addition of phosphatidylserine 717761
Display the word mapDisplay the reaction diagram Show all sequences 2.7.8.29W277R naturally occuring mutation in gene PTDSS1 causing Lenz-Majewski hyperostotic dwarfism with hyperphosphoserinuria, the patient shows hyperostosis and osteosclerosis resulting from accelerated bone formation, and increased PTDS biosynthesis caused by the PTDSS1 mutation leading to hyperphosphoserinuria, phenotype 740791
Results 1 - 6 of 6