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EC Number
Protein Variants
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1.14.14.79
H331P
the naturally occuring mutant protein CYP4V2 protein is expressed at high levels in ocular target tissues of patients with Biettis crystalline corneoretinal dystrophy. The enzyme is metabolically active toward polyunsaturated fatty acids. The functional deficit among patients with Biettis crystalline corneoretinal dystrophy who carry the H331P variant is most likely a consequence of the instability of the mutant protein
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