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Results 41 - 42 of 42

EC Number	Protein Variants	Commentary	Reference
1.1.1.300	Y226C	mutation present in all individuals affected by autosomal recessive childhood-onset severe retinal dystrophy from three Austrian kindreds, enzyme expressed in COS-7 cells shows diminished activity	656851
1.1.1.300	Y226C	naturally occuring mutation, autosomal recessive biallelic mutation causing severe retinal dystrophy	761045

Results 41 - 42 of 42

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Release 2023.1 (January 2023)