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All inquiries, additions to the list, and comments should be made to Bill Copeland.
Amino Acid Substitution: P648R
cDNA Position: 1943 c→g (exon 10)
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Disease | Genetics | Frequency | Reference |
SANDO | Found in compound w/R807C in a 39 y.o. patient. | (Gago et al., 2006) PubMed |
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PEO + myopathy | ar, Found as either homozygous mutation or as compound in trans with R1096C in PEO. | Not found in 250 control individuals | (Horvath et al., 2006) PubMed |
Ptosis and myopathy | Found in trans with T251I and P587L in a 59 y.o. male with dysphagia, dysphonia, myopathy, ptosis, and mtDNA deletions. Father had same symptoms. | (Ferreira et al., 2011) PubMed |
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SANDO | Found in trans with R807C in a 49 y.o. pt. with SANDO and mtDNA deletions | (Ferreira et al., 2011) PubMed |
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PEO | Found in trans with W585X in a 50 y.o. male with PEO, dysphagia, dysphonia, and parkinsonism with mtDNA deletions | (Ferreira et al., 2011) PubMed |
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Parkinsonism and SANDO | Found in trans w/R807C ina 52 y.o. male with ptosis, muscle weakness,dysphagia, and SANDO with mtDNA deletions and only 5% COX negative ragged red muscle fibers | (Miguel et al., 2014) PubMed |
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PEO | Found as a homozygous mutation in a 61 y.o. female with dysarthria, dysphagia, cataract, ataxia, polyneuropathy, thyropathy, and upper cerebellar cyst. Patient has mtDNA deletions and ragged red muscle fibers. | (Pozzo et al., 2017) PubMed |
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Neuropathy w/ cataracts and glaucome | Found with H932Y in a 1 y.o. male with uppper and lower limb distal neuromyopathy with ragged red fiberes, cataracts. Later developed strabismus, ptosis, glaucoma, and muscle weakness. | (Castiglioni et al., 2018) PubMed |