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Results 1 - 10 of 13 > >>
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EC Number Protein Variants Commentary Reference
Display the reaction diagram Show all sequences 3.6.1.70689insT recessive mutation associated with ataxia and oculomotor apraxia, huge loss in protein stability 740677
Display the reaction diagram Show all sequences 3.6.1.70840delT recessive mutation associated with ataxia and oculomotor apraxia, huge loss in protein stability 740677
Display the reaction diagram Show all sequences 3.6.1.70A198V recessive mutation associated with ataxia and oculomotor apraxia, huge loss in protein stability 740677
Display the reaction diagram Show all sequences 3.6.1.70D267G recessive mutation associated with ataxia and oculomotor apraxia, huge loss in protein stability 740677
Display the reaction diagram Show all sequences 3.6.1.70H260A recessive mutation associated with ataxia and oculomotor apraxia, huge loss in protein stability 740677
Display the reaction diagram Show all sequences 3.6.1.70H260N catalytically inactive 754827
Display the reaction diagram Show all sequences 3.6.1.70K197Q recessive mutation associated with ataxia but not oculomotor apraxia, mild presentation allele 740677
Display the reaction diagram Show all sequences 3.6.1.70P206L recessive mutation associated with ataxia and oculomotor apraxia, huge loss in protein stability 740677
Display the reaction diagram Show all sequences 3.6.1.70R199H recessive mutation associated with ataxia and oculomotor apraxia, protein retains substantial function, consistent with altered activity 740677
Display the reaction diagram Show all sequences 3.6.1.70T739C homozygous mutation idientified in a patient with ataxia-oculomotor apraxia type 1 740277
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