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