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EC Number Protein Variants Commentary Reference
Display the word mapDisplay the reaction diagram Show all sequences 1.14.14.79H331P the naturally occuring mutant protein CYP4V2 protein is expressed at high levels in ocular target tissues of patients with Bietti’s crystalline corneoretinal dystrophy. The enzyme is metabolically active toward polyunsaturated fatty acids. The functional deficit among patients with Bietti’s crystalline corneoretinal dystrophy who carry the H331P variant is most likely a consequence of the instability of the mutant protein 728344
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