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All inquiries, additions to the list, and comments should be made to Bill Copeland.
Amino Acid Substitution: T851A
cDNA Position: 2551 a→g (exon 16)
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Disease | Genetics | Frequency | Reference |
Alpers | Found in trans w/R1047W. | Not found in over 100 control alleles | (Wiltshire et al., 2008) PubMed |
Alpers | Found in trans w/H277L. | (Ashley et al., 2008) and a correction in (Ashley et al., 2009) PubMed |
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Opthmalplegia and seizures | Found in trans w/P163S in a 21 y.o. female with peripheral neuropathy, seizures, dysarthria and bilateral ptosis | 2 in 322 mitochondrial disease patients | (Woodbridge et al., 2012) PubMed |
Opthmalplegia and peripheral neuropathy | Found in trans w/N468D in a 49 y.o. female with ptosis, lower limb weakness, sensory ataxia, gastrointestinal symptoms, and peripheral neuropathy | 2 in 322 mitochondrial disease patients | (Woodbridge et al., 2012) PubMed |