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All inquiries, additions to the list, and comments should be made to Bill Copeland.
Amino Acid Substitution: G746S
cDNA Position: 2236 g→a (exon 13)
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Disease | Genetics | Frequency | Reference |
Ataxia, PEO | ar, Found in cis w/ E1143G, and in trans G848S | 1in 454 alleles | (Stewart et al., 2009) PubMed |
PEO | Found in trans w/G848S in a 36 y.o. male with PEO, peripheral neuropathy, and ataxia | (Lax et al., 2012a) PubMed |