Literature summary for 1.14.11.28 extracted from

Mordechai, S.; Gradstein, L.; Pasanen, A.; Ofir, R.; El Amour, K.; Levy, J.; Belfair, N.; Lifshitz, T.; Joshua, S.; Narkis, G.; Elbedour, K.; Myllyharju, J.; Birk, O.S.
High myopia caused by a mutation in LEPREL1, encoding prolyl 3-hydroxylase 2 (2011), Am. J. Hum. Genet., 89, 438-445.

Protein Variants

Protein Variants	Comment	Organism
G508V	mutation is associated with high myopia in human. Mutant G508V expressed in insect cells is completely inactive	Homo sapiens

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

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Release 2023.1 (January 2023)