Mutation Report for: H82R_human-ABHD5H82R_human-ABHD5 Gene_Locus | | | human-ABHD5 |
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Mode of mutation | | | Natural mutant |
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Amino Acid change | | | |
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Torpedo number | | | |
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Summary | | | |
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Comment | | | p.H82R His82Arg c.245A>G. A 42-year old patient with muscle weakness genital ichthyosiform erythroderma hearing loss bilateral subcapsular cataract. Compound heterozygote for p.H82R and p.R234X |
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Kinetic parameters | | | none |
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