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Results 1 - 6 of 6
EC Number
Amino acid exchange
Commentary
Reference
L265P
naturally gain-of-function mutation mutation of PSS1
P269L
naturally gain-of-function mutation mutation of PSS1
P269S
naturally gain-of-function mutation mutation of PSS1
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
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
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
Results 1 - 6 of 6