Mutation Report for: IVS6+6A>T_human-ABHD5IVS6+6A>T_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 | | | IVS6+6 A>T homozygous point mutation affecting the predicted splice-donor site of intron 6 (IVS6+6 A>T) expected to result in frameshifts and the production of truncated, nonfunctional protein |
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Kinetic parameters | | | none |
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