All inquiries, additions to the list, and comments should be made to Bill Copeland.
Amino Acid Substitution: R709X
cDNA Position: 2125 c→t (exon 12)
|PEO||Found as compound with T251I.||(Del Bo et al., 2003)
|PEO||Found as compound with T251I-P587L in a pt. w/ mtDNA deletions.||Di Fonzo 2003: Not found in 100 DNA samples from healthy Italians||
(Di Fonzo et al., 2003)