EC Number |
Protein Variants |
Reference |
---|
2.7.8.29 | L265P |
naturally gain-of-function mutation mutation of PSS1 |
741056 |
2.7.8.29 | P269L |
naturally gain-of-function mutation mutation of PSS1 |
741056 |
2.7.8.29 | P269S |
naturally gain-of-function mutation mutation of PSS1 |
741056 |
2.7.8.29 | Q353R |
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 |
2.7.8.29 | R97K |
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 |
2.7.8.29 | W277R |
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 |